Population record
Saudi Arabia · 302 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Methods: We report a 34-year-old Saudi male from a consanguineous family with insulin-treated diabetes diagnosed during adolescence. In individuals with atypical diabetes accompanied by multisystem involvement, particularly in the setting of consanguinity, early consideration of monogenic diabetes and timely genetic testing may facilitate accurate diagnosis and molecular classification.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia. METHODS: This retrospective case report describes two siblings from a consanguineous family diagnosed with PKDYS2.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Congenital adrenal hyperplasia in Saudi Arabia: Epidemiology, genetic mutations, and evolving management strategies. This review summarizes the epidemiology, genetic spectrum, clinical presentation, and management of CAH in Saudi Arabia. Literature review indicates that the incidence of CAH in the Kingdom is substantially higher than global estimates, mainly due to high consanguinity rates.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “OBJECTIVE: We report three children from the same Saudi tribe with a novel homozygous deletion in CA5A gene, manifesting predominantly as developmental delay without hyperammonemia and major metabolic crises. The second patient, a 7-year-old girl born to consanguineous parents, had delayed motor and language milestones with persistent speech delay, microcephaly, and mild to moderate intellectual disability, but normal metabolic and neuroimaging findings.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum. While some variants suggest a possible founder effect, the identification of new variants reflects the genetic diversity within the Saudi population. This study provides clinical information on a large number of patients, updates the prevalence and epidemiologic data in our population, and further expands the understanding of the disease's genetic and clinical spectrum within a highly consanguineous population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “BACKGROUND: Multiple sclerosis (MS) is increasingly recognized across Gulf Cooperation Council (GCC) countries, where rising disease burden intersects with distinctive ancestry, family structure, consanguinity patterns, vitamin D deficiency, rapid environmental transition, and an unevenly developed genetic literature. Saudi Arabia contributes familial and registry-based observations, with exploratory mitochondrial studies representing an additional future-oriented non-HLA research layer.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy. We present a rare case of HJMD from Saudi Arabia. A six-year-old Saudi girl, born to first-cousin consanguineous parents, presented with sparse scalp hair growth from birth and decreased night vision from one year of age. Although several mutations have been reported in Saudi Arabia, the CDH3 c.1918T>G variant identified in this patient further expands the understanding of the genetic spectrum of HJMD in the region.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders. However, data on JSRD in the Saudi population remain limited. This study aimed to identify novel and reported JSRD-causing variants in Saudi families and analyze their potential functional impact on protein structure using advanced computational tools. RESULTS: Homozygous variants were identified in three consanguineous Saudi families, including a novel stop-gain variant in KIF7 (c.2992 C > T; p.(Gln998Ter)), and novel splice-site variant in CEP104 (c.489 + 1G > A) and a previously reported splice-site variant in TMEM237 (c.869 + 1G > A). CONCLUSION: This study identified three pathogenic variants in JSRD-related genes in Saudi families, including two novel variants. These findings expand the variant spectrum for JSRD, particularly in the Saudi population. Establishing a comprehensive regional variant database is essential for improving molecular diagnosis and genetic counseling in population with high consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Advancing Life Sciences and Biotechnology in Saudi Arabia: A Comprehensive Overview of the Saudi Biobank Project Study Design and Aspirations. Saudi Arabia presents a unique setting for such research due to its rapidly growing, youthful, and genetically homogeneous population shaped by high rates of consanguinity. The Saudi Biobank Center was established to leverage these unique demographic and genetic characteristics to support precision medicine and public health initiatives aligned with national development goals. In this article, we present a comprehensive description of the structure, design, and methodology of the Saudi Biobank project. In a companion article, we will report the baseline demographic and clinical characteristics of the inaugural Saudi Biobank cohort and outline the project’s strategic direction.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population. BACKGROUND: Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. OBJECTIVES: This review is aimed at summarizing gene mutations and variants associated with IBDs in the Saudi population to enhance diagnosis and personalized care. METHODS: Published studies on IBD-related genetic mutations in Saudis were systematically retrieved from PubMed, Web of Science, Google Scholar, and EGEMS database using keywords "gene," "Saudi," "polymorphism," and "the different inherited blood disorders." A total of 118 studies published between 2015 and 2024 met the inclusion criteria. CONCLUSION: The Saudi population exhibits a distinct and diverse spectrum of IBD-related mutations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We report the case of a seven-month-old Saudi male infant with a history of intrauterine growth restriction who presented at 2.5 months of age with severe hyperglycemia and polyuria. These findings emphasize the importance of early genetic testing in neonatal diabetes, particularly in the presence of congenital anomalies and parental consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Novel Homozygous SCNN1B Variant Causing Severe Systemic Pseudohypoaldosteronism Type 1B in a Saudi Infant: A Case Report. We report an eight-month-old Saudi male infant, born to consanguineous parents, who initially presented at seven days of life with persistent hyperkalemia, hyponatremia, and metabolic acidosis.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A case report of congenital anterior urethral diverticulum: Is parental consanguinity a possible risk factor? This case report aimed to describe the clinical presentation and surgical management of a congenital anterior urethral diverticulum (CAUD) with parental consanguinity. His parents were Saudi cousins. Consanguinity as a risk factor remains to be explored.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family. Herein, we report a case of a preschool-aged Saudi girl who was born from consanguineous parents and presented with global developmental delay.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report. Identifying pathogenic variants is essential for diagnosis and personalized care, especially in consanguineous populations like Saudi Arabia. CASE SUMMARY: This report presents a Saudi pediatric patient diagnosed with PCD who exhibited persistent neonatal tachypnea, chronic productive cough, and recurrent otitis media. CONCLUSION: This case highlights the importance of genetic studies in diagnosing PCD, particularly in communities with a high rate of consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Male Child With Combined Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Elliptocytosis: The First Case Reported From Saudi Arabia. Here we report the first case of a five-year-old Saudi male from a consanguineous marriage who presented in the neonatal period with G6PD deficiency and recurrent hemolytic crises, including a severe episode following circumcision.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review. AIM: This study aimed to systematically synthesize evidence on the genetic and environmental risk factors associated with autism spectrum disorder (ASD) in the Saudi population. The high rate of consanguinity in Saudi Arabia may amplify the burden of recessive genetic variants, making the investigation of region-specific risk factors a critical public health priority. A comprehensive search across PubMed, Web of Science, Scopus, and ScienceDirect was performed to identify studies on ASD risk factors in Saudi Arabia. Key environmental risk factors identified were prenatal phthalate exposure, maternal stress, vitamin D deficiency, and consanguinity. CONCLUSION: The etiology of ASD in Saudi Arabia is characterized by a complex interplay between genetic predisposition, often exacerbated by consanguinity, and prenatal environmental exposures.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CASE REPORT We report a female neonate was born to consanguineous Saudi parents with prenatal findings of dextrocardia, abdominal situs inversus, and ccTGA.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This study aims to investigate the natural history of the disease, present genetic and clinical appearance of the syndrome in a highly consanguineous population, Saudi Arabia, and finally provide an overview of the reported cases, their clinical features, and disease-causing variants. RESULTS: We present natural history of SPTBN4-associated neurodevelopmental disorder with hypotonia, neuropathy, and deafness in addition to four Saudi families with ten affected individuals who share clinical features of NEDHND.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development. This study presents a case series from Saudi Arabia highlighting novel and known DHX37 variants in three patients with 46,XY DSD. Three Saudi patients presented with ambiguous genitalia, non-palpable or atrophic testes, and hypergonadotropic hypogonadism. Thus, this is the first case series of DHX37-related DSD in Saudi Arabia, expanding the mutational spectrum and reinforcing the gene's role in testicular development. Genetic testing, particularly whole-exome sequencing, is essential for accurate diagnosis and management, especially in regions with high consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This report presents two cases of AME in children from consanguineous families identified through clinical assessment and whole-exome sequencing (WES). Only five cases have been reported in Saudi Arabia, and only four case studies discussed treatment plans.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia. While its incidence is globally low, it may be under-reported, particularly in regions with high rates of consanguinity, such as the Middle East. CASE REPORT Herein, we present the case of a 48-year-old Saudi man of Arab descent with a 2-year history of progressive exertional dyspnea that recently worsened over the last 6 months, resulting in a Modified Medical Research Council (MMRC) dyspnea scale score increase from 2 to 3. CONCLUSIONS HPS1 with ILD is rare in Saudi Arabia. Consanguinity and endogamy, which are quite prevalent in the Middle East, probably means there is more prevalence of HPS and HPS-associated ILD than is recognized.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Prevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective. Consanguineous marriages are common, particularly in Saudi Arabia, where approximately half of all marriages are consanguineous. The likelihood of autosomal recessive (AR) genetic abnormalities, especially rare diseases (RDs) that present long-term health issues, is significantly increased by this trend, making Inherited Ocular Diseases (IODs) a public health concern in Saudi Arabia. This review aims to evaluate the public health landscape of IOD in Saudi Arabia, including epidemiology and genetic factors. These are among the expected results, which will eventually enhance health outcomes and ensure the long-term viability of Saudi Arabia's healthcare system.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Distal Renal Tubular Acidosis With Sensorineural Deafness in a Saudi Female: A Case Report of an ATP6V1B1 Mutation in a Consanguineous Family. We report the case of an 11-year-old Saudi girl with dRTA and congenital sensorineural hearing loss. This case highlights the clinical and genetic features of dRTA in a consanguineous family and underscores the importance of early genetic diagnosis and multidisciplinary management.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Variants in Protein Kinase Cδ (PRKCD) are known contributors, though remain underreported.ObjectiveTo describe the phenotypic, genetic, and outcome profiles of Arab children with monogenic lupus and PRKCD deficiency.MethodsWe retrospectively reviewed medical records of children with PRKCD deficiency lupus at two institutions in Saudi Arabia and Oman. Demographic, clinical, genetic, and follow-up outcome data were collected and analyzed.ResultsSeven children (four females) from three unrelated consanguineous Arab families were identified, with four having confirmed PRKCD variants.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “BACKGROUND: The landscape of oncology varies across countries and regions, and in consanguineous populations such as Saudi Arabia, the clinical management of hereditary cancers poses a distinct challenge. For high-risk breast cancer patients in Saudi Arabia, the detection rates of PVs/LPVs have reached 24%, underscoring the relevance of targeted interventions. RESULTS: A comprehensive framework for the management of HBCs is outlined, which focuses on consanguineous populations and adapts global guidelines.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia. Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. We place a high value on using genetic knowledge to create a national screening program and patient registry aimed at understanding the national burden of myopia, knowing that we have a high rate of consanguinity, which reflects pathogenic homozygous alleles and founder mutations. This initiative will incorporate genetic counseling and leverage innovative technologies, which are crucial for disease management, early identification, and prevention in Saudi Arabia's healthcare system.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Novel Variant of the FERMT3 Gene Associated With Leukocyte Adhesion Deficiency Type III (LAD-III) in a Saudi Family: A Case Series. This case study focuses on a family with consanguineous parents and multiple affected individuals spanning two generations, all diagnosed with LAD-III due to a novel homozygous mutation in the FERMT3 gene (c.1683-22_1683-19del).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report. Our case involved a seven-year-old girl with no history of consanguinity, who was discovered to have a 6.6 Mb deletion in the 12q24.23q24.31 region.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consanguinity and hearing loss prevalence among Saudi Arabia population. BACKGROUND: Childhood hearing loss (CHL) is a condition that can have a variety of causes, including genetic and environmental and its prevalence is thought to be high in Saudi Arabian population mainly due to consanguineous unions. This systematic literature review aims to conclude the prevalence of hereditary hearing loss and its risk factors among the Saudi population. Consanguinity prevalence ranged from 21.1 % to 80.8 %, with first cousin marriages being common. The prevalence of CHL among offspring from consanguineous marriages was consistently higher than non-consanguineous unions. The risk of CHL in offspring from consanguineous marriages was significantly elevated, as evidenced by Almazroua's study (2020) reporting a 3.5 times higher risk. CONCLUSION: This systematic review reveals a substantial association between consanguinity and an increased risk of congenital sensorineural hearing loss in the Saudi Arabian population. The prevalence of consanguinity, coupled with the consistently higher prevalence of CHL among offspring from such unions, emphasizes the need for targeted public health interventions. Educational programs, genetic counseling, and expanded premarital screening programs are warranted to address the impact of consanguinity on hearing health in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This case report presents the case of an eight-year-old boy from Saudi Arabia, born to consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Saudi Arabia dominated with nearly two-thirds of the studies, while Bahrain contributed the least. Few studies explored the association between CAs and risk factors; the main factors reported were advanced maternal age, maternal diabetes and consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A single homozygous pathogenic variant of the RUBCN gene has been reported to date in two unrelated consanguineous Saudi families with spinocerebellar ataxia autosomal recessive 15 (OMIM#613516).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Reduced ovarian reserve among female offspring of consanguineous marriages in the Middle East-a mini review. BACKGROUND: Consanguineous marriages remain prevalent in many regions of the world, particularly within the Middle East, where reported prevalence exceeds 50% in countries such as Saudi Arabia, Oman, and the United Arab Emirates. Despite evidence that consanguineous marriages increase genetic risks through increased levels of homozygosity, which might lead to gene dysfunction, their impact on female fertility remains unclear. Although the data is limited and inconsistent, female offspring of consanguineous marriages appear to have a higher risk of reduced ovarian reserve compared to their peers from non-consanguineous marriages, with a more pronounced effect in young women. AIM: This mini review synthesizes current evidence on the relationship between parental consanguinity and ovarian reserve in female offspring to clarify existing findings and highlight research gaps. Studies evaluating ovarian reserve markers, including Anti-Müllerian Hormone (AMH) and Antral Follicle Count (AFC), in women with and without parental consanguinity were included. Two reported significantly lower AMH and AFC levels among women aged ≤35 years with parental consanguinity, whereas one found no significant association between parental consanguinity and ovarian reserve markers. DISCUSSION: The current findings suggest that parental consanguinity may contribute to reduced ovarian reserve in female offspring; however, the data are not consistent. Differences in study design and degree of consanguinity may explain these inconsistencies. This review could be used to raise awareness about the potential influence of parental consanguinity on the reproductive health of their family's offspring, to encourage early counselling and proactive fertility assessment. The results present a call to action, highlighting the need for further research on this issue within the Middle East region, where consanguinity is highly prevalent.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genetic disorders are very prevalent in Saudi Arabia. The high prevalence of consanguinity in the population explains, to a great extent, the incidence of genetic disorders being relatively higher in the Kingdom of Saudi Arabia (KSA) compared to many other countries.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy. Since Bethlem myopathy is a rare disease, no previous studies have been conducted in Arab countries, including Saudi Arabia. Case presentation: Here, we report a Saudi pediatric patient, who is 9 years old (proband), brought to the pediatric clinic of King Saud's Hospital by his mother. Conclusions: This is the first study to report a case of Bethlem myopathy confirmed by WES in Saudi Arabia and all Arab nations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here, we report the detection of ANKS6 variants in consanguineous families with polycystic kidney antenatally and in the early stages of life. METHODS: Three unrelated Saudi Arabian patients (two prenatal patients and one neonate) were investigated.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “While genetic influences are strongly linked with the etiology of ADHD, it remains obscure how consanguinity which is an underlying factor for many genetic diseases, contributes to ADHD subtypes. Arabian Gulf Nations have one the highest rates of consanguineous marriages, and consanguinity plays an important contributing factor in many genetic diseases that exist in higher percentages in Arabian Gulf Nations. Therefore, the current review aims to shed light on the genetic variants associated with ADHD subtypes in Arabian Gulf nations and Saudi Arabia in particular. The impact of a consanguinity-based understanding of the ADHD subtype will help to understand the genetic variability of the Arabian Gulf population in comparison with the other parts of the world and will provide novel information to develop new avenues for future research in ADHD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Materials and Methods: In this study, a consanguineous Saudi family with two affected individuals exhibiting symptoms of severe motor impairment, spastic paraparesis, postural instability, and dystonia was studied.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia. These conditions are thought to have higher-than-average prevalence rates in Saudi Arabia due to high rates of consanguineous marriage in the country. There are several unmet needs associated with the management of these diseases in Saudi Arabia. An expert panel was assembled comprising seven consultant geneticists from across Saudi Arabia. CONCLUSION: The consensus statements presented provide specific recommendations to improve diagnostic and treatment approaches, promote multidisciplinary care and data sharing, and optimize the overall management of these rare inherited diseases in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CASE REPORT A 31-year-old Saudi woman born of a consanguineous marriage presented to our dermatology clinic with symmetrical indurated hyperpigmented to violaceous plaques over the medial thighs, upper legs, lower back, volar wrists, and upper arms, associated with hypertrichosis.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The prevalence of PKD in Saudi Arabia remains understudied, particularly in the context of consanguinity and non-specialized medical facilities. Consanguinity was prevalent, and hereditary connections were identified in five patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia. This case report explores the clinical presentation, diagnostic challenges, and genetic findings of an 11-year-old boy with MEGDEL syndrome at a tertiary care center in Saudi Arabia. The patient, born to consanguineous parents, presented with developmental delay, cerebral palsy, intellectual disability, and seizures. This case underscores the occurrence of MEGDEL syndrome in a child with cerebral palsy, highlighting the importance of a multidisciplinary approach for diagnosis and the need for genetic counseling in consanguineous families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here, we report the first identified cases of WRS syndrome with novel phenotypes in three consanguineous families (two Omani and one Saudi) characterized by biallelic variants in POLR3A. Pro819Leu) in two Omani families and one novel homozygous variant (c.1895G>T; p Cys632Phe) in Saudi family that segregates with the disease in the POLR3A gene.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia. Here, we present the first case of a neonate with nemaline myopathy from Al-Qunfudhah, Saudi Arabia. As the society in Al-Qunfudhah is known for consanguinity, as in our case, clinicians should identify other types of myopathy as it is expected to occur in further cases.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Mutation in this gene leads to progressive cerebellar ataxia with fine motor skills difficulties, intentional tremors, slow slurred speech and learning difficulties in a 12-year-old Saudi patient. To our knowledge, this is the first reported mutation in PMPCA gene leading to SCAR2 in Saudi Arabia. In addition, this will help to establish a database for the disease and its causative factors will further help in controlling diseases resulting from consanguinity in Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family. A Saudi family with four affected individuals with cerebellar vermis hypoplasia, facial dysmorphology, visual impairment, skeletal, and cardiac abnormalities was ascertained in this study.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family. In this study, we aimed to identify the genetic causes of CHD in consanguineous families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Identifying knowledge deficiencies in genetics education among medical students and interns in Saudi Arabia- A cross-sectional study. BACKGROUND: Understanding genetics is crucial for medical students, particularly in Saudi Arabia, where genetic disorders are prevalent owing to high rates of consanguineous marriages. This study aimed to assess the current state of genetics knowledge among medical students and interns across Saudi Arabia and to identify knowledge gaps in genetics. METHOD: A cross-sectional study was conducted between August and September 2023 involving 732 medical students from all regions of Saudi Arabia. CONCLUSION: The current study revealed a notable deficiency in the understanding of medical genetics among medical students and interns in Saudi Arabia, particularly regarding genetic inheritance and testing.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This study investigates the relationship between parental consanguinity, family medical history, and the onset of childhood vitiligo, hypothesizing that genetic factors play a significant role. METHODS: A cross-sectional study was conducted involving 382 people diagnosed with vitiligo in Saudi Arabia. The study assessed the prevalence of parental consanguinity and its correlation with the disease's onset, employing statistical analysis to evaluate the data collected through medical records and family history questionnaires. RESULTS: The findings reveal a significant association between parental consanguinity, particularly among first cousins, and the incidence of childhood-onset vitiligo. CONCLUSION: This study underscores the critical role of genetic predispositions in the development of childhood-onset vitiligo, highlighting the influence of parental consanguinity. The results advocate for increased awareness and screening in populations with high rates of consanguinity to facilitate early detection and management of vitiligo.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Sanfilippo syndrome is of a higher prevalence within consanguineous families that carry its gene alteration. In Saudi Arabia, the incidence rate is estimated at 2 per 100,000 live births.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family. We identified a consanguineous Saudi family segregating developmental delay, mental retardation and epilepsy. Further, explain the possibility that PACS2 gene play important role to cause intellectual disability, epilepsy and epileptic encephalopathies in this Saudi family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “To the best of our knowledge, the present study is the first reported FA case in a Saudi family with phenotypic atypical FA features. Furthermore, the present results may establish a disease database, providing a groundwork for understanding the key genomic regions to control diseases resulting from consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consanguineous Marriage and Its Association With Genetic Disorders in Saudi Arabia: A Review. Consanguineous marriages, where spouses are related by blood, have been a longstanding practice in human history. The primary medical concern with consanguineous marriages is the increased risk of genetic disorders. In Arab countries, especially Saudi Arabia, the rate of consanguineous marriage is high compared with Western European and Asian countries. Additionally, it was noted that the rate of negative postnatal outcomes is higher in consanguineous marriages compared with the general population. In this review, we aim to discuss the current evidence regarding the association between consanguineous marriages and genetic disorders in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. This study reports eight patients from Saudi Arabia with novel deleterious variants in UBE3B and adds to the phenotypic spectrum of KOS.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “There are limited cases of neonates with DKA who have heterozygous mutations in INS and PKHD1 genes, especially in Saudi Arabia. We present a case of neonatal diabetes with diabetic ketoacidosis (DKA) born to consanguineous parents in Saudi Arabia. CASE REPORT: A six-month-old boy born to consanguineous parents with a family history of neonatal diabetes was diagnosed with DKA.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Although its exact prevalence is uncertain, the estimated incidence in Saudi Arabia ranges from one in 40,000 to one in 600,000 live births. We report a case of Sanjad-Sakati syndrome in a female infant, born to first-degree consanguineous parents, who presented with convulsive seizures since the age of four months.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family. So far, the association of TXNDC15-related MKS has been reported in only five independent families from diverse ethnic origins, including Saudi, Pakistani, Estonian, and Indian.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Rare THPO Gene Mutation in a Saudi Female Child: A Case Report and Literature Review. We report the case of a Saudi girl who had been asymptomatic until age seven when she was found to have unexplained thrombocytopenia. This report highlights the importance of genetic testing for unexplained persistent hematological abnormalities for early diagnosis, especially in consanguineous populations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “To the best of our knowledge, there are only three reported cases in Saudi Arabia. We report a case of a 21-year-old female patient, a product of a consanguineous marriage, referred to the neurology clinic for new-onset dysphagia and dysarthria in association with progressive painful muscle stiffness, which started at the age of four years.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Factor XII deficiency has been reported in the Saudi population in several studies, either as isolated case reports or included within the studies of rare bleeding factors deficiency. CASE REPORT: Herein we describe a homozygous missense variant involving exon 12 within F12 gene (5:176,830,269 G>A; p.Gly506Asp) in a 36-year-old Saudi multiparous female referred from the surgical clinic with significantly high activated partial thromboplastin time during preoperative assessment for sleeve gastrectomy. Family history revealed consanguinity as the parents are first-degree cousins.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “It also focuses on reported cases in Saudi Arabia and their prevalence. Eventually, we provide a few recommendations for disease management, particularly in regions like Saudi Arabia where consanguineous marriages increase the risk.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We report here the case of a Saudi infant born to consanguineous parents who presented to us with severe failure to thrive, profound neurodevelopmental delays, and facial dysmorphic features.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis. METHOD: The whole exome sequences (WESs) of three consanguineous Saudi families having many siblings with IBD were analyzed to discover the causal genetic defect.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia. We report the case of a two-year-old full-term girl of consanguineous Saudi parents, who had a history of poor sucking, hypotonia, and bilateral ptosis, as well as recurrent pediatric intensive care unit (PICU) admissions with apnea and global developmental delay and unremarkable family history.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CASE PRESENTATION: A 3-year-old male Arab Saudi patient with insignificant past medical history and parental consanguinity presented with abdominal distension of moderate severity and persistent fever despite receiving antibiotics.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Parental experience with an ocular genetic counseling services in Saudi Arabia. PURPOSE: This study reports parental attitudes towards preimplantation genetic diagnosis (PGD) and their satisfaction with genetic counseling services offered by a territory eye care hospital in Saudi Arabia. RESULTS: Eighty percent of the participants understood the concept of recessive inheritance patterns and the effect of consanguineous marriages on raising the likelihood of giving birth to a child with genetic disorders.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Predictors of Consanguinity Marriage Decision in Saudi Arabia: A Pilot Study. Consanguineous marriages are common in Saudi Arabia, increasing the risk of genetic blood disorders in offspring. This pilot study assessed the knowledge and perceived threats regarding genetic blood disorders, norms, and premarital screening for consanguineous marriage among unmarried university students in Saudi Arabia as a predictor of marriage decisions. In total, 400 unmarried students at Saudi Arabian universities were recruited using the non-probability convenience sampling technique. Most of the participants had a favorable attitude toward consanguineous marriage, while perceived threats towards genetic blood disorders were perceived as neutral by the participants. Moreover, their norms regarding consanguineous marriage also showed neutral results. However, participants with good and neutral norms regarding consanguinity marriage were significantly protective factors against poor marriage decisions with an RRR ratio of 0.165 (95% CI:0.030-0.918, p = 0.04) and 0.238 (95% CI: 0.071-0.797, p = 0.02), respectively. To mitigate the risk of genetic blood disorders in future generations, there is a need for targeted awareness campaigns about genetic blood disorders and the risks of consanguineous marriages by integrating this education into university curricula, and premarital counseling.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Exome studies on the Saudi genome discovered > 3000 novel nucleotide variants associated with > 1200 rare genetic disorders. Intellectual disability comes first with the combined and observed carrier frequency of 0.06779 among Saudi Arabians; retinal dystrophy is the next highest. Genome studies have discovered interesting novel candidate disease marker variations in many genes from consanguineous families. These recent discoveries in disease markers and molecular genetics of the Arab population will have a positive impact towards supporting genetic counsellors on reaching consanguineous families to manage stress linked to genetics and precision medicine.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The Awareness of Females About Risk Factors That Lead to Having a Baby With Congenital Heart Disease in Taif, Saudi Arabia. Background There is limited data on the awareness of risk factors associated with congenital heart diseases in Saudi Arabia. This study assesses females' knowledge of the risk factors that lead to giving birth to a child with congenital heart disease in Taif, Saudi Arabia. An online questionnaire was used to collect data about the participants' demographics and their knowledge of risk factors that lead to having a baby with congenital heart disease, including risks such as smoking, drinking alcohol, taking unprescribed medication, exercising, contracting German measles, developing thyroid disease, and not taking vitamins and folic acid, as well as genetic factors such as high blood pressure, diabetes, obesity, consanguineous marriage, advanced maternal age, and eating unhealthy food. A little over 73.3% of the participants were aware that risk factors for preterm birth included not taking vitamins and folic acid during pregnancy, obesity (68.9%), contracting German measles while pregnant (68.5%), consanguineous marriage (62.2%), developing thyroid disease during pregnancy (56.7%), and advanced maternal age (50%); 11.4%, 46.1%, and 42.5% of the participants had poor, fair, and good understanding, respectively, of the risk factors for having a baby with congenital cardiac disease.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We present a case of a 2-year-old boy with AMC, who was born to consanguineous parents in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The condition is more commonly found in Finnish, Saudi, and Czech families. We report three brothers from a consanguineous marriage that presented with complaints of decreased vision of varying degrees.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Predictors of Parental Recall of Newborn Hearing Screening Program in Saudi Arabia. Our study aims to evaluate parents' perceptions of UNHS and to identify predictors for newborn hearing screening recall in Saudi Arabia. A cross-sectional study involving Saudi parents with 0-to-18-year-old children born in Saudi Arabia was conducted. Females, parents aged 30-34 years, consanguineous parents, and parents of newborns who were treated with antibiotics were more likely to recall hearing screening compared to others.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The child, birthweight of 2,200 g, was born to first-degree consanguineous parents after a full-term uneventful pregnancy and was hospitalized in the neonatal period due to indirect hyperbilirubinemia, gastrointestinal bleeding, diarrhea lasting 2 weeks, and elevated liver enzymes. CONCLUSION: Coexistences of rare genetically transmitted diseases can be seen in countries where consanguineous marriages are common (Saudi Arabia, Iran, Pakistan, etc.), as in our country, Turkey.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia. This paper describes the cases of two Saudi Arabian sisters, aged 37 and 36, who were born to first-degree consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In this study, we performed whole-exome sequencing (WES) to identify the genetic component responsible for the phenotype of the index patient, a male infant born to a consanguineous family from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature. Pathogenic variants of the gene cause an autosomal recessive syndrome known as "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta." RESULTS: Here, we have investigated six patients from three different consanguineous Saudi families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient. In the current study, we examined a Saudi consanguineous family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Highly consanguineous populations can impact the detection of recessively inherited genes. Two consanguineous families with neonatal death due to CAKUT were investigated. We report two Saudi Arabian consanguineous families with CAKUT phenotypes that included renal agenesis caused by missense variants in GFRA1 and NPNT, confirming the role of these two genes in human kidney development.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized to the extremities and hypotrichosis since birth. Methods: The present study describes a consanguineous Saudi family segregating HYPTSV in an autosomal recessive fashion.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here, we identified a novel homozygous O-sialoglycoprotein endopeptidase (OSGEP) variant, NM_017807.3:c.973C>G (p.Arg325Gly), in four affected individuals in an extended consanguineous family from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report. CASE PRESENTATION: We report a full-term neonate born to first-degree cousins from fourth-generation consanguineous families, who had with antenatal history of reduced fetal movements.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consanguinity and Congenital Heart Disease Susceptibility: Insights into Rare Genetic Variations in Saudi Arabia. Consanguinity, particularly among first cousins, is an added risk factor for these families, particularly in societies where it is considered a common cultural practice, as confirmed in previous studies conducted in Saudi Arabia and other countries. In this review, we discuss the epidemiology and genetics of CHD in consanguineous populations focusing on Saudi Arabia as an extensive study model to address current advances and challenges in the clinical genetic diagnosis and prevention of CHD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “COQ8B-Related Steroid-Resistant Nephrotic Syndrome in Saudi Arabia: A Case Report. We conclude that physicians need to consider renal causes in their workup of any unexplained oedema in children and that in such cases, screening for rarer genetic causes should be considered in a country such as Saudi Arabia, given the relatively high rates of consanguinity here.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Pro790Leu), which encodes the subunit of alpha of calcium-sensitive potassium channels, which causes epilepsy but not dyskinesia in a young Saudi female who is the daughter of consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families. Here, we describe two unrelated consanguineous families from the northern region of Saudi Arabia harboring a missense variant (RTN4IP1:NM_032730.5; c.475G<T, p.Val159Phe) in the gene. Since the families belong to one of the tribal inhabitants of Saudi Arabia, we postulate that the variant is likely to be a founder.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In the study presented here, four consanguineous families (A-D), with members showing neurodevelopmental symptoms, were recruited for clinical and genetic characterization of the phenotypes. Two of these families (A, B) were of Saudi Arabian origin, and two others (C, D) were of Pakistan origin.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant. A full-term male infant born from consanguineous Saudi parents, with one other live child, is suspected to have skeletal dysplasia on a fetal anomaly scan.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient. CASE PRESENTATION: In this case report we describe a novel genotype linked to a unique phenotype in a Saudi patient born of a consanguineous marriage.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy. This report expands the clinical variability and molecular characterization of an emerging novel causative gene for Joubert syndrome in a Saudi boy born to non-consanguineous marriage with a c.1418del p.(Pro473Leufs*42) and c.800A > G p.(Tyr267Cys) representing a novel compound heterozygous variant of the TCTN1 gene identified by whole-exome sequencing and confirmed by Sanger sequencing. This is the first report of compound heterozygous Joubert syndrome type 13 from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Exploring People's Knowledge of Genetics and Attitude towards Genetic Testing: A Cross-Sectional Study in a Population with a High Prevalence of Consanguinity. This study investigated people’s knowledge of genetics, attitudes toward genetic testing, and views on consanguinity. This cross-sectional study utilized a validated questionnaire modified from published studies to collect data on people’s knowledge of genetics and attitudes about genetic testing among 1008 respondents from various Saudi Arabian regions. Impetus on how to disseminate genetic information on consanguinity and transmission of diseases should be prioritized in regions where consanguineous marriages are high.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Spinal muscular atrophy carrier frequency in Saudi Arabia. Although no large-scale popultion-based studies have been done in Saudi Arabia, it is reported that the incidence of SMA is higher in the Saudi population partly because of the high degree of consanguineous marriages. We estimated the birth incidence of SMA to be 32 per 100,000 birth and the total number of people living with SMA in the Kingdom of Saudi Arabia to be 2265 of which 188 are type I, 1213 are type II, and 8,64 are type III. CONCLUSION: The SMA carrier rate of 2.6% in Saudi control subjects is slightly higher than the reported global frequency of 1.25 to 2% with links to the high degree of consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism. CONCLUSION: To the best of our knowledge, the double mutation in HPS6 (p.Ser379Ter and p.Ala597GlnfsTer16) represents novel pathogenic variants, not described previously, which we report for the first time in the Saudi family. WES should be used to identify HPS6 and/or other disease-associated genetic variants in Saudi Arabia, particularly in consanguineous families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We report a neonate born to a consanguineous couple with typical clinical manifestations of YVS. To our knowledge, this is the first reported case of YVS from the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population. Here, we report two unrelated patients, who were born to consanguineous parents, having two novel MEGF10 deleterious variants. Interestingly, the presence of MEGF10 associated EMARDD has not been reported in Saudi Arabia, a highly consanguineous population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies. This report discusses the case of 3 Saudi sisters having WWS. The 3 sisters aged 18, 22, and 25 years took birth to consanguineous parents (first-degree cousins).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A higher incidence of CAH is expected in countries where consanguinity is common, such as in the countries of the WHO Eastern Mediterranean Region (EMRO). Neonatal CAH screening was only available nationally in Qatar, Kuwait and partially in Lebanon and Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “By candidate gene curation of WES data, combined with homozygosity mapping, we detected a homozygous predicted synonymous allele in NPHP3 in two children with hepatorenal fibrocystic disease from a consanguineous family. Remarkably, the same rare variant was detected in four additional families with hepatorenal disease from UK, US, and Saudi patient cohorts and in addition, another synonymous NPHP3 variant was identified in an unsolved case from the Genomics England 100,000 Genomes data set.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting. Treatment options are extremely limited, and aspects of society and medical care in Saudi Arabia have the potential to increase incidence and limit treatment pathways in HoFH. METHODS: Along with a brief review of the evidence available on HoFH we describe the treatment of two Saudi Arabian patients with HoFH diagnosed and treated in accordance with local clinical practices and with the microsomal triglyceride transferase protein inhibitor lomitapide. RESULTS: HoFH in Saudi Arabia is characterized by problems associated with consanguinity, a lack of access to lipoprotein apheresis, and pressures to proceed to liver transplant. Lomitapide is an effective therapy for HoFH, and we look forward to improved access to this drug in Saudi Arabia, where there is a chronic unmet medical need in HoFH.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Nutritional rickets and osteomalacia are common in the Gulf Cooperation Council countries which include Saudi Arabia, United Arab Emirates, Kuwait, Qatar, Bahrain, and Oman. Due to high levels of consanguinity in the region, genetic causes of phosphopenic and calcipenic rickets/osteomalacia are also common.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients. METHODS: We retrospectively reviewed the clinical, genetic and neuroimaging findings of eleven Saudi neonates diagnosed with WWS between April 2012 and December 2018 in a single tertiary care center. The case with an additional PGAP2-related phenotype exemplifies the increased risk of dual autosomal recessive disorders in consanguineous populations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In the present study, we describe a large consanguineous family of Saudi origin segregating a complex developmental syndrome in an autosomal recessive fashion.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In this study, we are reporting a case of osteogenesis imperfecta type XIV from a Saudi consanguineous family. This study expands our knowledge about the rare type of osteogenesis imperfecta in our consanguineous population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Herein, we report a consanguineous Saudi family with three CHD affected daughters.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “ADAT3 mutation is a recognized cause of intellectual disability (ID) in Saudi Arabia, particularly amongst consanguineous families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here, we report the genetic and functional characterization of a non-consanguineous Saudi family with a single affected individual. This represents the first case from the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Saudi Arabia provided the highest frequency of overall MPS because of regional or consanguineous marriages (or founder effect), followed by Portugal, Brazil, the Netherlands, and Australia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families. METHODS: Six consanguineous Saudi Arabian families were recruited to study the molecular genetic causes of recurrent miscarriages and lost fetuses due to oligohydramnios, renal agenesis and other congenital anomalies. CONCLUSION: We describe consanguineous families with clinical features of antenatal oligohydramnios and bilateral renal agenesis, in whom we have identified novel pathogenic variants in FRAS1 and FREM2.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “It is a relatively rare disease around the globe, but due to increased rates of consanguinity within the Kingdom of Saudi Arabia, we speculate a high incidence of undiagnosed cases. Moreover, we propose a referral multi-disciplinary team HCM-Family Unit in Saudi Arabia and an integrated role in a network between King Faisal Hospital and Inherited and Rare Cardiovascular Disease Unit-Monaldi Hospital, Italy (among the 24 excellence centers of the European Reference Network (ERN) GUARD-Heart).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We compared the preterm births group (delivery < 37 weeks) with the term group (delivery ≥ 37 weeks) regarding socioeconomic factors, including maternal nationality, religion, level of education, mother's occupation, family income, housing, consanguinity, early childbearing, high-risk pregnancy, smoking, assisted conception, antenatal care, and place of delivery. There were more Saudi nations in the preterm group compared to term (33% vs.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The prevalence of renal stones among local residents in Saudi Arabia. This study aimed to assess the prevalence of renal stones among local residents in Saudi Arabia in order to renew the statistics of renal stones occurrence in the current Saudi population. METHODS: A cross-sectional study was conducted using an electronic questionnairethat was distributed randomly through phones and social media to reach the local residents in Saudi Arabia. We then reviewed the published papers in Saudi journals for patients with renal stones. We also observed a relatively high percentage of positive family history among renal stone patients (34.9%) that could be attributed to the high rates of consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The present study's objective was to elucidate the role of DFNB12 allelic variants of CDH23 in Saudi Arabian patients. Four affected offspring of a consanguineous family with autosomal recessive moderate to profound NSHL without any vestibular or retinal dysfunction were investigated for molecular exploration of genes implicated in hearing impairment. In conclusion, our study identifies pathogenic CDH23 variants responsible for isolated moderate to profound NSHL in Saudi patients and further highlights the associated phenotypic variability with a genotypic hierarchy of CDH23 mutations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Of the 18 studies, 11 studies were conducted in Saudi Arabia, two in the Kingdom of Bahrain, one in Kuwait, three in the United Arab Emirates (UAE), and one in Qatar. The most-reported risk factors were consanguineous marriage and high-risk marriage. This study suggested that the PMSGC program should adopt more attention for the high-risk areas, to enhance the level of consciousness about the hemoglobinopathy diseases and the consequences of consanguinity among the at-risk couple.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here we aimed to identify the gene causing HCM in a non-consanguineous Saudi Arabian family with affected family members and a history of sudden death.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe herein a novel homozygous CARMIL2 variant (c.1364_1393del) in two Saudi Arabian male siblings born to consanguineous parents who developed EBV-SMTs.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We report a girl from a consanguineous Saudi family presenting with hypotonia, developmental delay, feeding difficulties and floppiness since birth.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. METHODS: We studied a consanguineous family having three affected individuals with clinical features of severe intellectual disability and global developmental delay.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family. Materials and Methods: In this study, whole exome sequencing was employed to detect genes that likely contributed to the NSOFC phenotype in a consanguineous Saudi family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In this report, we describe a novel syndromic form of AMC in two multiplex consanguineous families from Saudi Arabia and Oman.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Regional variation of pediatric inflammatory bowel disease in Saudi Arabia: Results from a multicenter study. AIM: To investigate the regional differences in the IBD profiles of pediatric patients from the Kingdom of Saudi Arabia. Consanguinity rate was higher in children with CD and UC from the CR and the ER, respectively. CONCLUSION: The most important finding is the identification of significantly more severe presentation of CD in the ER of the Kingdom of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case Report. On further history it was found that he is a child of first-degree consanguinity, and he had these patches since he was four months old.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Incidence trends of childhood acute lymphoblastic leukemia in Saudi Arabia: Increasing incidence or competing risks? The hypothesis was that, due to population characteristics (young age, high fertility and parental consanguinity rate), the incidence of cALL in Saudi Arabia is equal or higher than that observed in high-income Western countries. METHODS: Saudi databases were used to calculate the incidence of cALL from 2001 to 2014. RESULTS: The age-adjusted incidence over the years was lower in Saudi Arabia compared to USA. However, the incidence trend of cALL in Saudi Arabia was increasing at a rate higher than that observed in USA (p < 0.001). The overall incidence of cALL in Saudi Arabia increased from 1.58/100,000 in 2001 to 2.35/100,000 population in 2014. CONCLUSIONS: The reported incidence of cALL in Saudi Arabia is rapidly increasing.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Influence of Parental Physical Activity and Screen Time on the BMI of Adult Offspring in a Saudi Population. Saudi Arabia is witnessing a drastic rise in adult obesity. This study's purpose is to determine the differences between parent and adult child (the subjects here) levels of physical activity (PA) and screen time (ST) between normal weight and obese adults in the Saudi Arabian population. Maternal age (87.8% ≤ 20 years in the Ov/Ob group (Gp) and consanguineous marriage (88.9% in the Ov/Ob Gp) showed significant differences. Differences in the parent and child levels of PA and ST exist between normal weight and obese Saudi Arabian adults. Consanguineous marriage and early maternal age may be associated with progressive adult obesity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait while rarely reported in Pakistan. He had consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The prevalence of familial HLH in Saudi Arabia is underestimated. Due to the high rate of consanguinity and the local customs of marrying within the same community, clinicians should consider familial HLH as a cause of persistent, unexplained, chronic diarrhea among the pediatric age group.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We report two consanguineous families with probands that exhibit intellectual disability, developmental delay, short stature, aphasia, and hypotonia in which homozygous non-synonymous variants were identified in IQSEC1 (GenBank: NM_001134382.3). In a Pakistani family, the IQSEC1 segregating variant is c.1028C>T (p.Thr343Met), while in a Saudi Arabian family the variant is c.962G>A (p.Arg321Gln).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families. RESULTS: In this study, we report four consanguineous Saudi Arabian families with early onset PKD which were associated with biallelic variants in PKD1 gene.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Using WES, we identified a biallelic truncating variant in DNAJA1 gene (c.511C>T p.(Gln171*) in a multiplex Saudi consanguineous family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Precision medicine of monogenic disorders: Lessons learned from the Saudi human genome. Saudi Arabia (SA) has the highest consanguinity rates among Middle Eastern countries (~60% of all marriages) and is burdened by the highest number of genetic diseases. In 2013, SA initiated the Saudi Human Genome Program (SHGP), which aims to sequence over 100,000 human genomes, with the goal of identifying strategies to discover, prevent, diagnose and treat genetic disorders through precision therapy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Given that a high percentage of marriages are consanguineous in this region, the prevalence may be much higher than assumed. RECENT FINDINGS: Mutations were reported in familial hypercholesterolemia cases from the Saudi, Iranian, Lebanese, and Syrian populations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation. Case presentation: This study reports the genetic analysis of a 4-year Saudi girl presenting lamellar ichthyosis. Conclusion: In isolated and inbred populations, homozygous variants are identified more frequently; however, our results suggest that compound heterozygous variants should also be considered especially when the marriages are not consanguineous.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A homozygous mutation (T305C) leading to a leucine substitution with proline (L102P) was found in three affected kindred (2 males and 1 female) from a consanguineous Saudi Arabian family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Massively parallel sequencing of autosomal STRs and identity-informative SNPs highlights consanguinity in Saudi Arabia. Here, we carried out MPS of 27 autosomal STRs and 91 identity-informative SNPs (iiSNPs) with the Verogen ForenSeq™ DNA Signature Prep Kit on a representative sample of 89 Saudi Arabian males, and analysed the resulting sequence data using Verogen's ForenSeq Universal Analysis Software (UAS) v1.3 and STRait Razor v3.0. Evidence of consanguinity was apparent from both marker types. While TPOX was the only locus displaying a significant deviation from Hardy-Weinberg equilibrium, 23 out of 27 STRs and 63 out of 91 iiSNPs showed fewer than expected heterozygotes, demonstrating an overall homozygote excess probably reflecting the high frequency of first-cousin marriages in Saudi Arabia. We placed our data in a global context by considering the same markers in the Human Genome Diversity Panel (HGDP), revealing that the Saudi sample was typical of Middle Eastern populations, with a higher level of inbreeding than is seen in most European, African and Central/South Asian populations, correlating with known patterns of endogamy. Given reduced levels of diversity within endogamous groups, the ability to combine the discrimination power of both STRs and SNPs offers significant benefits in the analysis of forensic evidence in Saudi Arabia and the Middle East region more generally.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Analysis of 21 autosomal STRs in Saudi Arabia reveals population structure and the influence of consanguinity. Variation in the 21 autosomal STRs detected by the GlobalFiler multiplex was investigated in a sample of 523 indigenous male Arabs from five geographic regions of Saudi Arabia. Although allele frequencies for the entire dataset were found to be broadly similar to those determined in previous studies of Saudi citizens, significant differences were found among regions. Heterozygote deficiency was observed at nearly all loci in all regions, probably as a consequence of high levels of consanguineous marriage; in the case of D2S1338, which showed the largest deviation from Hardy-Weinberg equilibrium, the presence of a null allele also played a part.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here we investigate two consanguineous Saudi families and we identified three probands with epileptic encephalopathy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: A PubMed search for relevant published articles was conducted using the following search terms singly or in combination: "atopy," "atopic disease," "atopic disorder," "International Study of Asthma and Allergies in Childhood," "ISAAC," "asthma," "allergic rhinitis," "eczema," and "food allergy" in combination with the names of countries of the Arabian Peninsula (Kuwait, United Arab Emirates, Bahrain, Qatar, Oman, Kingdom of Saudi Arabia, and Yemen). Further, genetic factors, such as factors related to gene polymorphism, and the high rate of consanguinity in the region may contribute to the higher prevalence of atopic diseases.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Family history was positive for glaucoma, with consanguineously married parents. The aim of this paper is to lay the foundation for a national database on AGS in Saudi Arabia, which will help create a bridge between genetic data and clinical findings of AGS patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population. Familial hypercholesterolemia (FH) is a metabolic disorder that leads primarily to premature cardiovascular diseases, the main cause of mortality in Saudi Arabia (SA). FH is underreported and underdiagnosed in SA with statistical evidence of high expected prevalence in such a consanguineous community.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We identified a consanguineous family of Saudi origin with varying complex features including intellectual disability, speech delay, facial dysmorphism and polydactyly.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CLINICAL REPORT: We report multiple affected family members from a consanguineous Saudi family with microcephaly and congenital cataracts.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The condition was initially described in a consanguineous Saudi Arabian family with affected siblings homozygous for a P387L mutation.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PATIENT CONCERNS: We herein report a full term Saudi female neonate born to consanguineous parents, who was noticed immediately after birth to have severe hypotonia, poor respiratory effort, and dysmorphic features. LESSONS: Mitochondrial respiratory chain defect should be considered in patients with severe neonatal hypotonia,encephalopathy, and respiratory failure especially in highly consanguineous population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PURPOSE: To describe two young Saudi brothers with bilateral progressive retinal arterial aneurysms and a subtotal exudative retinal detachment with Coats-like presentation in the older sibling as the initial presentation of Familial Retinal Arterial Macroaneurysms (FRAM). OBSERVATIONS: Two young Saudi brothers with a family history of consanguinity presented with the classic clinical presentation and genetic identification of FRAM.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Reproductive health profile and circumcision of females in the Hali semi-urban region, Saudi Arabia: A community-based cross-sectional survey. DESIGN: A cross-sectional household survey SETTING: Houses in Hali, Al-Qunfudhah governorate, western Saudi Arabia during 2017. Consanguinity was recorded in 57.0% of houses. Girls with higher parental education, enough income, no parental consanguinity, and whose mothers married at an older age had slightly lower rates of circumcision, but the difference was without statistical significance. CONCLUSION: The pattern of early female marriage, high consanguinity, GMP, low contraceptive use, and a high frequency of circumcision in girls was apparent in Hali.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe multiple family members from a consanguineous Saudi family with peeling skin syndrome.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In a multiplex consanguineous Saudi family affected by severe and recurrent large joint dislocation and severe myopia, we identified a homozygous truncating variant in GZF1 through a combined autozygome and exome approach. Independently, the same approach identified a second homozygous truncating GZF1 variant in another multiplex consanguineous family affected by severe myopia, retinal detachment, and milder skeletal involvement.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In a consanguineous Saudi family segregating Usher syndrome type 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exome sequencing each failed to identify a mutation. Genome-wide linkage analysis revealed two small candidate regions on chromosome 3, one containing the USH3A gene CLRN1, which has never been associated with Usher syndrome in Saudi Arabia. We identified this mutation in an additional two of seven unrelated mutation-negative Saudi USH1 patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. OBJECTIVES: We aim to identify the genetic cause of intellectual disability and self-mutilation in a consanguineous Saudi family with five affected members. 1171T>C) in the CRBN gene was identified in five individuals with severe intellectual disability (ID) in a consanguineous Saudi family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This report presents a case of Bloom syndrome (BS) in a consanguineous Saudi family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients. In order to discover the missing heritability due to rare variants, we have exome sequenced a consanguineous Saudi family presenting CD in an autosomal recessive (AR) pattern. Sequence validation of 200 chromosomes each of sporadic CD cases and controls, revealed that this extremely rare (EXac MAF 0.000008) mutation is highly penetrant among general Saudi populations (MAF is 0.62).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry. However, their prevalence is largely unknown in Saudi Arabia but given the high rates of consanguinity, the prevalence appears to be higher. Furthermore, the high prevalence of obesity and diabetes mellitus in Saudi Arabia increases the vascular disease burden in FH cases by adding additional CVD risk factors. OBJECTIVE: This article explores the spectrum of FH-causing mutations in the highly consanguineous Saudi community, the need for establishing the Saudi FH registry, the challenges in creating gene databases, and cascade screening.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The Saudi population is enriched for autozygosity, which enhances the homozygous occurrence of alleles, including pathogenic alleles in genes that have been associated only with a dominant inheritance pattern. METHODS: Exome sequencing of patients from consanguineous families with likely recessive phenotypes was performed.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Our objective was to identify the spectrum of mutations of the factor VIII and factor IX genes in Saudi Arabian population and determine the genotype and phenotype correlations by molecular dynamics (MD) simulation. METHODS: For genotyping, blood samples from Saudi Arabian patients were collected, and the genomic DNA was amplified, and then sequenced by Sanger method. These findings are useful for genetic counseling in the case of consanguineous marriages which is more common in the Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here, we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss-of-function mutation in KIF15 in a consanguineous Saudi Arabian family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The entity affects millions of people, particularly those whose ancestors came from sub-Saharan Africa and other countries in the Western Hemisphere, Saudi Arabia, and India. Currently, the high frequency of S and C genes reflects natural selection through the protection of heterozygotes against severe malaria, the high frequency of consanguineous marriages, improvement of some public health policies and the nutritional standards in the poorer countries where newborns are now living long enough to present for diagnosis and management.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A cross-sectional survey of multi-generation inflammatory bowel disease consanguinity and its relationship with disease onset. UNLABELLED: Background\Aim: Consanguinity influences the phenotypic variations of some hereditary and immune-mediated disorders, including inflammatory bowel disease. This study estimated the prevalence of consanguinity among the ancestors of patients with inflammatory bowel disease and examined the effect of various consanguinity levels on inflammatory bowel disease onset. PATIENTS AND METHODS: Patients with inflammatory bowel disease who were seen at two gastroenterology outpatient clinics were consecutively recruited and surveyed for demographics, disease onset, and presence of ancestral consanguinity within three generations. The prevalence of different consanguinity levels was calculated. The association between age at inflammatory bowel disease onset and consanguinity was examined. A family history of inflammatory bowel disease was reported in 29.5% of patients; consanguinity within three generations was reported in 57.6%. Consanguinity in more than one generation was reported in 38.7%; 17.5% had consanguinity in three consecutive generations. There was no association between inflammatory bowel disease onset and multi-generation consanguinity, but there was an association with disease subtype in favor of ulcerative colitis (b coefficient = 7.1 [95% confidence interval = 4.1, 10]). CONCLUSIONS: Consanguinity is extremely common among Saudi patients with inflammatory bowel disease but does not seem to influence age at disease onset. Genetic studies are needed to further clarify the effect of consanguinity on disease behavior.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? RESULTS: Two-and-half years old Saudi male child whose parents are consanguineous fulfilled the clinical and magnetic resonance imaging (MRI) criteria of BTRBGD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family. Here we investigated a large consanguineous Saudi family with four affected and four unaffected individuals. This is the first report of whole-exome sequencing performed for molecular diagnosis of PALS in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature. Consanguinity has been recorded in many cases. Herein we present two new Saudi cases with review of the literature. Our first proband was a 9 month-old male who was the first baby for parents descended from a closed consanguineous pedigree. The second proband was a 13 month-old male who was the first baby for consanguineous parents (3(rd) C). The role of consanguinity needed to be highlighted to the community.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. UNLABELLED: To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome. Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Saudi Arabian male from a consanguineous family was admitted to neonatal intensive care unit in his first days of life because of transient tachypnea and hematuria.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family. A consanguineous family with a history of multiple stillbirths was investigated using prenatal ultrasound and molecular genetic analysis of an affected foetus.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family. OBJECTIVES: The present study aimed to identify the genetic cause of non-syndromic primary failure of tooth eruption in a five-generation consanguineous Saudi family using whole-exome sequencing (WES) analysis.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. The majority of cases had recessive inheritance with homoallelic pathogenic variants (97.4 %, 37/38), as expected considering the high rate of consanguinity in the study population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A homozygous frameshift mutation in LARP7, a chaperone of the noncoding RNA 7SK, was discovered in patients from a single consanguineous Saudi family. To further delineate the phenotype associated with LARP7 mutations, we report two additional cases originating from the Netherlands and Saudi Arabia. Both cases were identified by diagnostic whole-exome sequencing, which detected two homozygous pathogenic LARP7 variants: c.1091_1094delCGGT in the Dutch case and c.1045_1051dupAAGGATA in the Saudi Arabian case.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously named ODZ3) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The alteration had been reported in two individuals from a consanguineous Saudi Arabian family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia. Genetic counseling is an evolving field in Saudi Arabia. In 2015, genetic counseling was recognized as a Master's program by the Saudi Commission for Health Specialties. Our genetic counselors combine their knowledge of genetics, counseling theory and interpersonal communication to serve Saudi and non-Saudi patients affected with a range of genetic conditions and/or birth defects. The Saudi population has unique customs and beliefs, such as consanguinity and the evil eye. This review article presents the scope of genetic counseling practice and tackles some of the challenges faced in providing genetic counseling in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe a clinically recognizable autosomal-recessive disorder in four affected siblings from a consanguineous Saudi family, comprising progressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. Using a gene-centric "matchmaking" system, we were able to identify a Peruvian simplex case subject whose phenotype is strikingly similar to the original Saudi family and whose exome sequencing had revealed a likely pathogenic homozygous missense variant in the same gene.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We have also a high incidence of consanguineous marriages, which increase the risk of transmission of recessive and homozygous genetic disorders. In order to adapt existing global guidance documents on HoFH to the Middle East region, we convened a panel of experts from Oman, Saudi Arabia, UAE, Iran and Bahrain to draft a regional guidance document for HoFH.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. OBJECTIVE: Here, we report a Saudi Arab consanguineous family with 2 affected sisters presented with the typical nail changes of NPS.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. We discovered a consanguineous Saudi family with the PRLTS3 phenotype showing an autosomal recessive mode of inheritance.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. In this study, we performed genome-wide homozygosity mapping of two affected and one unaffected subject in a Saudi family using a 300K HumanCytoSNPs12v12.1 array with the Illumina iScan system. To the best of our knowledge, we present a novel mutation of PTRF from Saudi Arabia and our findings broaden the mutation spectrum of PTRF in the familial CGL4 phenotype.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CD was reported in several Arab countries such as Saudi Arabia, Egypt, Jordan, Yemen, Kuwait, and Tunisia. The population with the highest risk is in Saudi Arabia due the prevalent consanguineous marriage culture. This review will help in developing customized molecular diagnostic approaches and promoting CD carrier screening in the Arab world in areas where consanguineous marriage is common particularly within Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consistent with the observation that the heterogeneous molecular basis of JATD has not been fully determined yet, we have identified two consanguineous Saudi families segregating JATD who share a single identical ancestral homozygous haplotype among the affected members. Subsequent targeted sequencing of CEP120 in Saudi and European JATD cohorts identified two additional families with the same missense mutation.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here we are reporting a case of idiopathic arterial calcification of infancy in a Saudi female newborn of non-consanguineous pregnant woman who had polyhydramnios.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: We describe an extended consanguineous Saudi family with typical CLS features in addition to significant scoliosis.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Familial hemophagocytic lymphohistiocytosis in two Saudi siblings. Primary familial hemophagocytic lymphohistiocytosis (HLH; or familial erythrophagocytic lymphohistiocytosis [FEL]) is a heterogeneous autosomal recessive disorder more prevalent with parental consanguinity. We report on two Saudi siblings with familial hemophagocytic lymphohistiocytosis.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis. OBJECTIVES: In this study, the aim was to investigate a consanguineous Saudi family with non-syndromic premolars and third molars agenesis and to identify the causal mutation(s) using whole exome sequencing. Whole exome sequencing was performed in two affected members of the Saudi family using the SureSelect Human all Exon 50 Mb kit (Agilent Technologies, Inc., Santa Clara, CA) and then sequenced on an Illumina HiSeq.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. We sought to explore the genotype-phenotype of Jervell and Lange-Nielsen syndrome (JLNS) patients in Saudi Arabia. We have also assessed the plausible effect of consanguinity into the pathology of JLNS. Mutations detected in this study will be advantageous in tribe and region-specific cascade screening of LQTS in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: In an ongoing effort to exploit the highly consanguineous nature of the Saudi population to catalog recessively acting embryonic lethal genes in humans, we have identified two families with a female-limited infertility phenotype.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Characterization of familial breast cancer in Saudi Arabia. BACKGROUND: The contribution of genetic factors to the development of breast cancer in the admixed and consanguineous population of the western region of Saudi Arabia is thought to be significant as the disease is early onset. CONCLUSION: The disruption of DNA repair pathways is very likely to contribute to breast cancer susceptibility in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Breast cancer in Saudi Arabia is apparently an early onset with many of the affected females diagnosed before they reach the age of 50 years. One possible rationale underlying this observation is that consanguinity, which is widely spread in the Saudi community, is causing the accumulation of yet undetermined cancer susceptibility mutations. In order to shed some light into the molecular mechanisms underlying breast cancer in the Saudi community, we identified KLOTHO (KL) as a tumor-specific methylated gene using genome-wide methylation analysis of primary breast tumors utilizing the MBD-seq approach. KL methylation was frequent as it was detected in 55.3 % of breast cancer cases from Saudi Arabia (n = 179) using MethyLight assay.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family. We report three siblings (21, 9, and 7 years old) from a consanguineous Saudi family with HH due to a homozygous mutation in HADH.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We described the coexistence of Crohn's disease and necrotizing sarcoid-like granulomatous disease in two siblings from a first-degree consanguineous Saudi family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In 2013 both Saudi Arabia and Qatar launched genome projects with the aim of providing information for better diagnosis, treatment and prevention of diseases and, ultimately to realize personalized medicine by sequencing hundred thousands samples. In particular, the Authors focus on the impact of consanguinity on population structure and disease frequency in the Arab world, on genetic testing and genomic analysis (i.e. technical aspects, impact, etc.) and on their regulations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: We describe a multiplex consanguineous Saudi family in which two full siblings and one half-sibling presented with classical features of Seckel syndrome in addition to optic nerve hypoplasia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consanguinity and disorders of sex development. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births. The incidence of ambiguous genitalia in Saudi Arabia has been estimated at 1:2,500 live births; whilst in Egypt, it has been estimated at 1:3,000 live births. There is clearly a need for further studies to address the frequency of DSD in communities with high levels of consanguinity. In developing countries with high levels of consanguinity, these limitations can be compounded by cultural, social and religious factors. Overall there is an indication that consanguinity may lead to an increase in incidences of both 46,XY and 46,XX DSD, and a co-ordinated study of populations with higher incidences of consanguinity/endogamy is needed to resolve this.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “To the best of our knowledge, this is the first reported case of HI in Saudi Arabia, where the child has survived beyond 7 years. The baby was born at 37 weeks of gestation from consanguineous parents with no inherited skin disorder in the family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This study highlights the importance of using homozygosity mapping combined with candidate gene analysis to identify the underlying genetic defect as in this Saudi consanguineous family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In a consanguineous Saudi family with multiple stillbirths presenting with LCCS, we excluded linkage to all known LCCS loci and combined autozygome analysis and whole-exome sequencing to identify a novel homozygous variant in ZBTB42, which had been shown to be enriched in skeletal muscles, especially at the neuromuscular junction.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family. OBJECTIVES: This study aims to identify underlying mutation in multiple individuals from a large consanguineous Saudi family with inherited nephropathy, including our index patient who manifested all the features of classical AS.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. We also identified another highly conserved homozygous WWOX mutation changing glycine 372 to arginine in a second consanguineous family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: Cross-sectional analysis of members of a large multiplex consanguineous family with congenital hyperinsulinism and rhabdomyolysis using autozygosity mapping and exome sequencing. RESULTS: Five affected members of an extended consanguineous Saudi family were recruited along with relevant unaffected relatives.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The present report describes the clinical signs and symptoms of three affected siblings from a consanguineous Bedouin family from Kuwait. This family shared the mutation reported earlier in Saudi families and families of Bedouin tribes from Qatar and Israel.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PATIENTS: We describe two brothers (ages 7 and 12 years) from consanguineous parents of Saudi ancestry.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research. The genetic study of diseases occurring in the offspring of consanguineous unions is a powerful way to discover new disease genes. This percentage is likely to be even higher in countries with a high consanguinity rate, such as the Kingdom of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consanguinity was suggested to contribute to the high incidence of NTDs in several countries, including Saudi Arabia. Syndromes, often associated with chromosomal anomalies, account for <10% of all NTDs; but a higher proportion (20%) has been documented in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Is consanguinity prevalence decreasing in Saudis?: A study in two generations. BACKGROUND: Saudi population is unique in that there is a strong preference for cousin marriages in the general population. We studied the prevalence of consanguinity in educated Saudi females and compared the results with the results obtained in their parents, to access if a generation difference in which extensive educational activities have prevailed to inform the people of the influence of cousin marriages on health, has made any difference in prevalence of consanguineous marriages. METHOD: A total of 600 Saudi women (421 university students and 179 women attending outpatients' clinics) were interviewed about their own and their parents' consanguinity. RESULTS: The total consanguinity (first and second cousins) was 29.7% in the parents. Consanguinity was significantly higher among the daughters than the parents, where 37.9% of the 293 married women had consanguineous marriages. The prevalence of consanguinity was studied in different age groups, though no significant pattern was observed. A strong correlation was found between consanguinity of parents and their daughters; consanguinity was highest (52.3%) in the daughters of parents who were themselves consanguineous. CONCLUSION: The results did not reveal any decrease in the prevalence of consanguinity over a generation.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Here we report the first Saudi patient with Mucolipidosis type IV from a consanguineous family with two branches having a total of five patients carrying a novel transition mutation, c.1307A>G (p.Y436C) in exon 11.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. We describe a consanguineous Saudi family segregating a complicated form of HSP in an autosomal recessive pattern.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia. In this case study we report the first Saudi IVA patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype-genotype correlation of the disease in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Our study describes a novel phenotype in a series of nine Saudi patients with lactic acidosis, from four consanguineous families three of which are related.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience. Consanguinity is practiced by around one tenth of the world population but its global distribution is far from uniform. In countries where consanguinity is common, a corresponding increase in the frequency of autosomal recessive diseases is usually observed owing to increased risk of homozygosity for ancestral haplotypes (autozygosity or identity by descent) that harbor pathogenic alleles. Recent advances in molecular genetics make it possible to leverage the mechanism by which consanguinity predisposes to the occurrence of autosomal recessive diseases in order to uncover the causal mutations at an efficient and cost-effective way compared to outbred populations. This review discusses the impact that new genomic tools have had on a sample patient population and how they can inform future public health policies in ways that might be relevant to other consanguineous populations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia. In a consanguineous family, a novel homozygous CASQ2 mutation (p.L77P) was identified in a child with CPVT who required implantation of a cardioverter defibrillator due to episodes of syncope while on medical therapy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PURPOSE: To describe the clinical and molecular analysis of a large multiplex consanguineous Saudi family with an unusual constellation of severe intellectual disability, hypohidrosis, abnormal teeth, and acquired microcephaly.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review. This report also highlights the importance of complement screening in cases of sporadic meningococcal Infections, especially in communities with high prevalence of consanguineous marriages, which will ensure timely and adequate clinical interventions.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We previously described a new form of recessive ataxia, Salih ataxia, in a large consanguineous Saudi Arabian family with three affected children carrying a new identified mutation in the KIAA0226 gene (c.2624delC; p.Ala875ValfsX146) coding for Rubicon.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The development of genetic counseling services and training program in Saudi Arabia. In 2005 the first Saudi genetic counseling training program was established by the Department of Medical Genetics at King Faisal Specialist Hospital and Research Center (KFSH&RC) in the Kingdom of Saudi Arabia. Special emphasis is made to unique cultural practices including consanguinity, religious influence, and termination of pregnancy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: The phenotype of six newborns, belonging to Saudi Arabian kindred with close consanguineous marriages, who presented with hyperekplexia associated with severe brain malformation, is described.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We report on a three-month-old Saudi girl who presented with hypocalcemic convulsions and was initially treated as nutritional rickets. BGC can be added as a new feature of HSH and the case highlights the importance of measuring serum Mg in patients with hypocalcemic convulsions, particularly in children of consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe an 8 months old Saudi girl, a product of consanguineous parents with unremarkable pre-natal and postnatal history and birth weight 2 kg.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions. Saudi Arabia has a population of 27.1 million. This is attributable to the high rate of consanguineous marriages (56%), the tribal structure, and large family size.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: Five boys (4-10 years old) from four consanguineous and/or endogamous Saudi Arabian families were identified.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In contrast, isolated spherophakia with short stature has been associated with three different homozygous ADAMTS17 mutations in three families from Saudi Arabia. The purpose of this report is to determine the genetic cause of isolated spherophakia with short stature in two siblings from a consanguineous Saudi family. In Saudi Arabia this phenotype shows allelic heterogeneity rather than founder effect.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We whole-exome-sequenced one consanguineous Saudi Arabian with clinically diagnosed PCD and normal laterality, to attempt ab initio molecular diagnosis. Our finding in southwest Saudi Arabia indicates that p.Lys268del, previously observed in two Bedouin families (Israel, UAE), is geographically widespread in the Arabian Peninsula.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe the clinical features, biochemical and molecular results of a Saudi infant with a new mutation of MPV17 and compared the features to those of previously reported cases. We stress the importance of such rare cases particularly in countries with high consanguineous marriage rate.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “High prevalence of complex congenital cardiac anomalies detected by fetal echocardiography in a cohort of Saudi women referred for prenatal assessment. We retrospectively described FE studies of 50 Saudi women referred for prenatal assessment. 58% had consanguineous marriage, and 72% had positive family history of CHD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Aborting a malformed fetus: a debatable issue in saudi arabia. Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Although CACP is a rare genetic disorder, several cases were described in the literature from ethnically different populations including Caucasian, Egyptian, Saudi Arabian, Pakistani, and Korean. RESULTS: The studied family is consanguineous and has multiple affected members from different branches showing congenital camptodactyly with arthropathy, the hallmarks of CACP.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe an extended consanguineous Saudi family in which HSP is linked to SPG18, a previously reported autosomal recessive locus, and show that it is associated with a nullimorphic deletion of ERLIN2, a component of endoplasmic reticulum associated degradation.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. Consistent with our previous observation of allelic heterogeneity in consanguineous populations, we show here that these diseases are largely caused by private mutations which present a major obstacle in replicating the Ashkenazi success story.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. A large region of marker homozygosity was observed at 10q24, consistent with known autosomal recessive inheritance, family consanguinity and previous genetic mapping in other families with Ochoa syndrome.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In this article, the unusual combination of arthrogryposis, upward gaze palsy, and Perthes disease in two sisters and their cousin who are all part of an extended consanguineous Saudi family is reported.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PURPOSE: To clinically and genetically characterize a distinct phenotype of congenital megalocornea (horizontal corneal diameter ≥13 mm) with secondary glaucoma from spherophakia and/or ectopia lentis during childhood in affected Saudi families. RESULTS: From 2005 to 2010, eight affected individuals from three consanguineous families were identified.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: A novel missense mutation in Bardet-Biedl syndrome 4 protein (BBS4) was identified in a consanguineous family from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Cardiovascular risk factors among adolescent secondary school boys in Ahad Rufeida, southwestern Saudi Arabia. More than half of the parents (54.5%) were consanguineous.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. In this study, homozygosity mapping is shown as a robust approach that is highly suited for genetically heterogeneous autosomal recessive disorders in populations in which consanguinity is prevalent. This study, the largest to date on Saudi BBS families, also revealed interesting phenotypic aspects of BBS, including the first report of non-syndromic retinitis pigmentosa as a novel BBS phenotype.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In this paper, I describe the investigations in three members of an extended consanguineous family from Saudi Arabia, in which nine members show severe mental retardation, long eyelashes, high nasal bridge, underdeveloped malae, low hanging columella, thin upper vermillion, and everted lower vermillion, retrognathia, and an open mouth apparently caused by mandibular dentoalveolar protrusion.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. BACKGROUND: Argininosuccinic aciduria (ASAuria) is an autosomal recessive disorder of the urea cycle relatively common in Saudi Arabia as a consequence of extensive consanguinity. It is the most common urea cycle disorder identified in the Saudi population, which therefore prioritizes the need to delineate the underlying molecular defects leading to disease. A missense mutation that accounts for 50% of Saudi ASAuria patients was recently reported by our laboratory. In this study we report a further six novel mutations (and one previously reported) found in Saudi patients with ASAuria. CONCLUSIONS: Together, the eight mutations described by our laboratory, encompass >90% of ASAuria patients in Saudi Arabia and add to about 45 other ASAuria mutations reported worldwide.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Estimation of modified concordance ratio in sib-pairs: effect of consanguinity on the risk of congenital heart diseases. It has long been suspected that consanguinity is a risk factor for many genetic defects. Therefore, we establish a procedure to test the significance of the difference between excess risk parameters in a sample of consanguineous marriages and another sample of non-consanguineous marriages. We apply the methodology to data from a hospital-based congenital heart defects registry in Saudi Arabia, a population in which consanguinity is quite common.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We have identified a novel form of recessive ataxia that segregates in three children of a large consanguineous Saudi Arabian family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: A consanguineous family of Middle Eastern origin was identified, and affected members underwent a full clinical evaluation. Screening of DNA from a panel of Saudi Arabian patients with autosomal recessive retinitis pigmentosa identified a second consanguineous family with the same mutation.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Molecular characterization of retinitis pigmentosa in Saudi Arabia. PURPOSE: To catalog mutations that underlie retinitis pigmentosa (RP) in Saudi Arabia using a representative sample. CONCLUSIONS: Homozygosity mapping is an extremely robust approach in the study of retinitis pigmentosa in the setting of high rates of consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Mode of inheritance in systemic lupus erythematosus in Saudi multiplex families. Twenty-five individuals with SLE belonging to seven Saudi families were included. Five of the seven families are consanguineous reflecting the high percentage of consanguinity in our population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. This trend of allelic homogeneity is contrasted by an opposite trend when the consanguinity factor is in play. Independent of endogamy at the population level, a consanguineous union is sufficient to render homozygous a percentage of the genome that is directly correlated with the degree of consanguinity. While we frequently assume founder effect in inbred populations, this report should serve to remind us of the powerful effect of the consanguinity factor, a common confounding variable among some of those populations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “To date, over 15 mutations have been found in consanguineous families of Greek, Italian, Turkish, Pakistani, Saudi Arabian, and Indian descent. Four unrelated consanguineous Tunisian families with a total of ten patients suffering from horizontal gaze palsy with progressive scoliosis.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We report the association of HSCR with Bardet-Biedl syndrome in 2 siblings born to consanguineous Saudi Arabian parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study. BACKGROUND AND OBJECTIVES: There is a high rate of consanguinity in Saudi Arabia; however, information on its relationship with genetic disorders is limited. The objective of this cross-sectional study was to explore the role of consanguinity in genetic disorders. Consanguinity status was obtained during household visits. RESULTS: During the two-year study period (2004-2005), 11 554 of 11 874 (97%) mothers answered the question on consanguinity, and 6470 of 11 554 (56%) were consanguineous. There was no significant association between first-cousin consanguinity and Down syndrome (P=.55). Similarly, there was no significant association with either sickle cell disease (P=.97) or glucose-6-phosphate dehydrogenase deficiency (P=.67) for first-cousin consanguinity. However, the most significant association with first-cousin consanguinity was congenital heart disease (CHD) (P=.01). For all types of consanguinity, similar trends of association were found, with a definite statistically significant association only with CHD (P=.003). CONCLUSION: The data suggest a significant role of parental consanguinity in CHD. However, a relationship between consanguinity and other genetic diseases could not be established. The effect of consanguinity on genetic diseases is not uniform and this should be taken into consideration in genetic counseling.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “There was first- and second-degree consanguinity in 31% and 16%, respectively, of patients' families. Disease course and severity were similar to that in Africans and American blacks and some reports from western Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: We examined nine affected individuals from five consanguineous Saudi Arabian families, all of whom harbored the same I75-I76insG homozygous mutation in the HOXA1 gene.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We report here a large consanguineous family from Saudi Arabia with four affected children presenting with generalized tonic-clonic epilepsy, ataxia and mental retardation, but neither myoclonus nor mental deterioration.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Regional variations in the prevalence of consanguinity in Saudi Arabia. OBJECTIVE: To report on the prevalence of consanguinity in each region of the Kingdom of Saudi Arabia including the variation in prevalence between urban and rural settlements. A cross-sectional sample determined by multistage random probability sampling of Saudi households from each of the 13 regions of the Kingdom. RESULTS: The overall prevalence of consanguinity was 56% with the first-degree cousin (33.6%) being more common than all other relations (22.4%). CONCLUSION: The national prevalence of consanguinity in the Kingdom of Saudi Arabia remains high. In addition, there are significant variations in the prevalence of consanguinity between certain regions as well as between rural and urban settlements that should be taken into consideration in further studies.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Epidemiology, clinical and complications profile of diabetes in Saudi Arabia: a review. Diabetes mellitus is emerging as a major public health problem in Saudi Arabia in parallel with the worldwide diabetes pandemic, which is having a particular impact upon the Middle East and the third world. The indigenous Saudi population seems to have a special genetic predisposition to develop type 2 diabetes, which is further amplified by a rise in obesity rates, a high rate of consanguinity and the presence of other variables of the insulin resistance syndrome. We highlight the epidemiology, clinical and complications profiles of diabetes in Saudi people. Diabetes is well studied in Saudi Arabia; however, there seems to be little research in the area of education and health care delivery.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. 3HMG is commonly observed in Saudi Arabia. METHODS: We utilized Whole Genome Amplification (WGA), PCR and direct sequencing to identify mutations underlying 3HMG in the Saudi population. All mutations were present in a homozygous state, reflecting extensive consanguinity. Together the three mutations described account for >94% of the pathogenic mutations underlying 3HMG in Saudi Arabia. CONCLUSION: Our study provides the most extensive genotype analysis on 3HMG patients from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Strategies for the prevention of hereditary diseases in a highly consanguineous population. Autosomal recessive hereditary diseases are relatively common in the Saudi population. The consanguinity rate is in excess of 50% and is a practice that remains strongly embedded within Saudi culture. In Saudi society, premarital screening to identify carrier status and the provision of appropriate counselling has tremendous potential to prevent inherited disease.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A pediatric neurologist's clinical experiences in Saudi Arabia. From 1996 to 2002, I was head of a pediatric neurology section and helped develop a fellowship training program in Saudi Arabia. This was a most rewarding learning experience because of an abundance of neurometabolic and neurodegenerative diseases in a population with a high rate of consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “All patients diagnosed to date are of Saudi, Syrian, or Yemeni ancestry, and all have consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described. Naxos disease has been encountered in a 2-year-old girl and her 30-year-old aunt of a Saudi Arab family. CONCLUSION: Absence of the Pk2157del2 frameshift in the affected child proved that Naxos disease in this Saudi Arab family is not caused by the same mutation that was identified in the Greek families. Furthermore, heterozygosity for the IVS11+22G/A polymorphism provided evidence for exclusion of the plakoglobin gene in this consanguineous family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe a 4 1/2 -year-old Saudi Arabian boy born to consanguineous parents who was initially seen with gradual onset of fever and abdominal distention.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The index case is a 9-month-old Saudi boy who was born after an uneventful pregnancy at 39 weeks. The father is 28 years old and the mother is 25 years old and are consanguineous.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Prospective study of hearing loss in schools for deaf children in Assir region, Saudi Arabia. Forty one cases (41%) were born as a result of consanguineous marriages.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Inherited neurodegenerative disorders are common in the Kingdom of Saudi Arabia as a result of the high rate of consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We studied 4 consanguineous kindreds diagnosed with FA from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We recently described an autosomal recessive form of multicentric osteolysis with carpal and tarsal resorption, crippling arthritic changes, marked osteoporosis, palmar and plantar subcutaneous nodules and distinctive facies in a number of consanguineous Saudi Arabian families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. In a consanguineous Saudi Arabian family two affected sibs with facial anomalies and short stature displayed a distal arthropathy of the metacarpal, metatarsal, and interphalangeal joints starting in the first few months of life that eventually progressed to the proximal joints and resulted in crippling ankylosis and severe generalized osteopenia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PURPOSE: Autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) has been described in families from Saudi Arabia. There are four unaffected siblings, and the parents are consanguineous.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This study sought to determine whether AR-CHED segregating in a consanguineous Saudi Arabian pedigree is linked to the previously mapped and overlapping loci for AD-CHED and PPMD on the pericentric region of chromosome 20. Forty members of a consanguineous Saudi Arabian pedigree segregating AR-CHED were ascertained.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genetically transmitted renal diseases in children: a saudi perspective. It is believed that such diseases, particularly those with an autosomal recessive transmission, may be more common in places with a high rate of consanguineous marriages as in the Middle East including the Kingdom of Saudi Arabia (KSA).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We used a DNA pooling strategy comparing the genotypes of affected to unaffected control pools in a genome-wide search for identity-by-descent on a consanguineous Saudi Arabian LCA family. This locus and the previously identified loci are excluded for other Saudi Arabian pedigrees, both confirming that this clinical disorder is genetically heterogeneous and that additional LCA genes remain to be identified.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Linkage analysis was undertaken in five consanguineous PFIC pedigrees from Saudi Arabia using marker loci (D18S69, D18S41, D18S64, D18S38, D18S42, D18S55, D18S68, and D18S61) which span the Byler disease/BRIC region on 18q21-q22.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Hearing impairment in association with distal renal tubular acidosis among Saudi children. The pedigrees of two families with half sibs showed the familial incidence for consanguineous marriage. Consanguinity was found to be positive in five out of the seven patients. The tribal tradition in Saudi Arabia fosters consanguineous marriages for cultural and social reasons and pre-arranged marriages are still seen.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We used the homozygosity gene-mapping strategy to localize this disorder to the region of chromosome 11p between markers D11S1334 and D11S899 (maximum LOD score 5.02 [theta = 0] at marker D11S926) in five consanguineous families of Saudi Arabian origin.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Changing marriage age and consanguineous marriage in Saudi females. Current marital age and consanguinity are not precisely known in Saudi Arabia. Saudi National Child Health Survey data were used to examine marital age, consanguinity, status and outcome of marriage of Saudi females. Thirty percent of marriages among literate groups and 39% in illiterate groups were consanguineous.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Osteopetrosis is a genetic disease that is relatively common in Saudi Arabia because of the high rate of consanguineous marriages.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Severe neonatal hypoglycaemia in five Saudi Arab infants of both sexes belonging to two families of consanguineous parents is reported.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A 5 1/2-year-old Saudi Arabian girl presented with a syndrome of intrauterine growth retardation, minor anomalies, hypoparathyroidism, and growth hormone deficiency. She was the product of a consanguineous mating. Her minor anomalies and delayed development were similar to findings in a previously reported Saudi Arabian patients with hypoparathyroidism and growth deficiency.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Risk factors for spontaneous preterm birth in a Saudi population. A multiple logistic regression analysis indicated that significant risk factors for preterm birth were first or second trimester vaginal bleeding during current pregnancy, a previous preterm birth, inadequate prenatal care, consanguinity, maternal body mass index of < 23, and short inter-pregnancy interval.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Saudi Arabian family is reported in which Glanzmann's thrombasthenia and von Willebrand's disease occurred simultaneously. In areas where consanguineous marriage is common, such as Saudi Arabia, multiple haemostatic abnormalities may occur, and investigation should not stop with the discovery of a single abnormality.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Risk factors of mental retardation in children attending an educationally subnormal/mental school in Dammam, Saudi Arabia. More consanguineous marriages were found in the control group (73.9%) as compared to the MR group (59.4%) (P = 0.056).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Chediak-Higashi syndrome: Report on five Saudi Arab children and review of the literature. Five cases of the Chediak-Higashi Syndrome (CHS) among Saudi Arab children were diagnosed between June 1978 and December 1990. All patients were males, ages 18 months to ten years, born to first degree consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Double stranded sequencing of the polymerase chain reaction (PCR) amplification products from genomic DNA of two affected cousins in a consanguineous Turkish family revealed a G-->A transition in the 20th codon of the GH1 signal peptide. In a Saudi Arabian family, a G-->C transversion was found that alters the first base of the donor splice site of intron IV.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cousin consanguineous marriage.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Coincident neuraminidase and aspartoacylase deficiency associated with chromosome 9Q paracentric inversion in a Saudi family. A large, consanguineous Saudi family with three members with sialidosis type 1 and five members with infantile central nervous system spongy degeneration of the brain (ICNSSD, or Canavan-Bertrand-van Bogaert disease) is described.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Unknown dysmorphic syndromes and development delay in Saudi Arabia. Forty-four Saudi Arabian patients with unknown dysmorphic syndromes were studied with respect to their level of cognitive delay. Significant associations were found between level of cognitive function and consanguinity, abnormal motor and language milestones, and abnormal electroencephalograms. Concerns were expressed about demands on family and community for these children, as well as possible larger issues in this heavily consanguineous society.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Coping with an affected birth: genetic counseling in Saudi Arabia. Saudi parents who have received genetic counseling following the birth of a child affected by a neurometabolic disorder were interviewed during their visits to a specialist hospital. The wide range of attitudes recorded toward consanguineous marriage and future births was a reflection of the position of Saudi families in a society undergoing rapid change.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Lipoid proteinosis: Clinical genetic, and pathological study of a Saudi Arabian family. We present the morphological features and clinical progression of lipoid proteinosis observed in six patients from a Saudi family. The condition is inherited as an autosomal recessive disorderm and consanguinity was an important factor. The rarity of this condition and the common occurrence of close-relative intermarriages in Saudi Arabia prompted this report, which we believe is the first and largest family with lipoid proteinosis possessing an established Arabian ancestry.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Cytogenetic investigations in three cell types of a Saudi family with ataxia telangiectasia. Chromosomal analyses were performed on lymphocytes, fibroblasts and lymphoblastoid cell lines derived from a Saudi family with ataxia telangiectasia (AT). The three siblings of a consanguineous marriage were all affected. The present study constitutes the first report on a cytogenetic analysis of a Saudi family with three AT siblings.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Corneal dystrophies among patients undergoing keratoplasty in Saudi Arabia. Macular dystrophy appears to be the most common cause of corneal dystrophy in Saudi Arabia. Twenty-two (42%) patients with macular dystrophy and 10 (91%) patients with CHED were the result of consanguineous marriages.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “[Wilson's disease in a Saudi Arabian female patient. Reports on Wilson's disease from Arab countries in the Middle East are rare, while the high frequency of consanguineous marriages should increase the prevalence of autosomal recessive diseases. The case of a 20-year old woman, born from first degree cousins in a relatively isolated area of Saudi Arabia, is reported.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The effect of consanguinity on pregnancy outcome in Saudi Arabia. A simple random sample of 4498 Saudi pregnant women was analysed to study the effect of consanguinity on pregnancy outcome. The rate of consanguinity was found to be 54.3% which comprised 31.4% of first cousins and 22.9% of other relatives. The differences between total consanguinity and unrelated marriages in the infant and perinatal death categories were significant (P = 0.05).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Our major focus is on extended pedigrees ascertained in Ireland containing a high density of schizophrenic cases, but we are also planning to use the technique of homozygosity mapping in an attempt to localize a recessively inherited gene that may be segregating in consanguineous families ascertained in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Congenital glaucoma is one of the main causes of blindness in children and is more common in Saudi Arabia than in Western countries, perhaps owing to the prevalence of consanguinity with families. Trabeculotomy has given poorer in Saudi Arabia than elsewhere.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Over a 3-year period, the diagnosis of persistent neonatal hyperinsulinism (PNH) was made in seven infants, from an unselected cohort of 18,726 births, all of Saudi Arabian origin. The high incidence, associated consanguinity, and occurrence in siblings suggest that PNH may be inherited as an autosomal recessive disorder.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Epidemiologic study of gestational trophoblastic diseases in Saudi Arabia. The role of cultural and socioeconomic diversities (that is, marriage, conceptions at the extremes of reproductive life, consanguinity, economic affluence and such) were analyzed for significance in the epidemiologic study of gestational trophoblastic disease (GTD) in Saudi Arabia. Consanguinity showed no significant epidemiologic role.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Marriage custom in Saudi Arabia is unique to the culture of that country and several different kinds of marriage are identified: arranged marriage of cousins; marriage of a couple who have not met before consummation; marriage of a couple who have met once before consummation; forced marriage; and, rarely, marriage preceded by a period of courtship. In 40% of discordant, consanguinous marriages the discord was directly related to the degree of consanguinity.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Cousin marriages and schizophrenia in Saudi Arabia. The rate and degree of consanguinity in the parents of 143 schizophrenics who satisfied the DSM-III diagnostic criteria, was compared in the same number of controls matched for age, sex and socioeconomic class. A family history of disorders suggestive of schizophrenia in the offspring of consanguineous parents who were schizophrenic, was compared with the incidence of a similar history in the schizophrenic offspring of non-consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Papillon-Lefevre syndrome in six Saudi children in the same family is described. The parents were unaffected, and parental consanguinity was present.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Spongy degeneration of the central nervous system (Van Bogaert-Bertrand disease): report of a case in a Saudi family. We report a case occurring in an Arab infant of consanguineous parents.” | 0.95 | saudi_context_rules_v1 |