Population record
Saudi Arabia · 13 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “The Direct Medical Costs of Sickle Cell Disease in Saudi Arabia: Insights from a Single Center Study. Background: Sickle cell disease (SCD) is a rare autosomal recessive disorder that is common in countries with consanguineous marriages. In Saudi Arabia, the prevalence of SCD is notably high, largely due to the frequency of consanguineous marriages. This study aims to assess these costs in Saudi Arabia. Results: A total of 100 patients met the inclusion criteria and were included in the analysis. These insights should motivate policymakers and healthcare researchers to assess both the national direct and indirect costs associated with SCD, especially given the significant number of SCD patients in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: this was a case-control study of 169 women who received radio-chemotherapy and 100 controls. However, family history of cancer, consanguinity, number of sleeping hours, and stress did not show any significant association with CC. The phylogenetic analysis of HPV isolates showed that the distribution of HPV sequences in Moroccan women with cervical cancer is mainly linked to European, Saudi Arabian and North African epidemiological conditions, suggesting recombinant HPV forms.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: A consanguineous Arab family with monozygotic twins presenting early onset IBD was screened by whole exome sequencing (WES). The IBD variants were further screened in in-house whole exome data of 100 Saudi cohorts ensure their rare prevalence in the population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families. The objective of this study was to characterize the genetic basis and understand the genotype-phenotype relationship in Saudi AS patients. Methods: Clinical phenotyping and whole-exome sequencing (WES) analysis were performed on six AS patients belonging to two unrelated consanguineous Saudi families. Sanger sequencing was performed to determine the mode of inheritance of ALMS1 variant in first-degree family relatives and also to ensure its rare prevalence in 100 healthy population controls. Hence, we propose c.11873-2A as an AS causative potential founder mutation in Saudi Arabia because it is found in two families lacking a common lineage.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability. In this study we have identified a large consanguineous Saudi family segregating a novel homozygous splice site donor alteration in NT5C2 gene leading to spastic diplegia cerebral palsy, developmental delay and microcephaly. The mutation was further ruled out in 100 healthy control from normal population. To the best of our knowledge this is the first report from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome. This mutation was ruled out in 100 unrelated healthy controls.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. The mutation was ruled out in 100 unrelated healthy controls. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Role of environmental factors in autism spectrum disorders in Saudi children aged 3-10 years in the Northern and Eastern regions of Saudi Arabia. OBJECTIVE: To study the environmental factors which can contribute to the development of autism spectrum disorders in Saudi children aged 3-10 years in Northern region (Arar) and Eastern region (Dammam) in the Kingdom of Saudi Arabia. METHODS: A case control study was conducted and the data was collected from September 2017 to December 2017 by interviewing the parents of 100 Saudi autistic children and 100 normal children aged 3-10 years from Arar and Dammam. RESULTS: There was a significant association between consanguineous marriages and autism. CONCLUSION: he environmental factors which could contribute to the development of autism are consanguineous marriage, inadequate family income, medications taken by the mother during pregnancy, vitamin D deficient diet of the child and maternal age during pregnancy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family. OBJECTIVE: To study the genetic defect in a consanguineous Saudi family with primary microcephaly. DESIGN: Cross-sectional clinical genetics study of a Saudi family. PATIENTS AND METHODS: Blood samples collected from six members of a family of healthy consanguineous parents were analyzed by whole exome sequencing to identify the underlying pathogenic mutations in two members of the family (23-year-old female and 7-year-old male) who presented with primary microcephaly, intellectual disability, delayed psychomotor development and walking difficulty, speech impedi-ments and seizures. Further validation in the affected patients and healthy members of family and 100 unrelated healthy persons as controls confirmed it to be pathogenic.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly. The mutation was ruled out in 100 unrelated healthy controls.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “OBJECTIVE: To describe a unique lens subluxation phenotype in a child from a consanguineous family and to determine its genetic basis. RESULTS: An otherwise healthy 3-year-old Saudi Arabian girl with poor vision since birth had smooth irides, lens subluxation, cone-rod dysfunction, and high myopia - features resembling Knobloch syndrome but differing in regard to direction of lens subluxation (superior rather than temporal) and the pattern of chorioretinal atrophy (without vitreous condensations or distinct macular atrophy). Autozygome-guided exome sequencing revealed the girl to harbor a homozygous exon 5 mutation in the ocular transcription factor gene visual homeobox 2 (VSX2) [c.773delA; p.Lys258SerfsX44] that was heterozygous in the unaffected brother and parents and absent in 100 healthy ethnically matched controls and on-line databases. For a consanguineous family with suspected recessive ocular disease but without a clear candidate gene, autozygome-guided exome analysis is a powerful technique, even when only a single patient is affected.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population. We used a combination of autozygosity mapping and candidate gene sequencing to identify a novel mutation in ILDR1, as a causative gene for autosomal-recessive non-syndromic hearing loss (arNSHL) in a consanguineous Saudi family with three affected children. To our knowledge, this is the first ILDR1 mutation identified in a Saudi family. Identification of ILDR1 mutation in only one of 100 Saudi familial and sporadic individuals with hearing loss suggests that this mutation is unique to this family and that ILDR1 should be considered as a rare cause of congenital deafness among Saudi Arabian population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family. Our recent studies indicate that nonsyndromic hearing loss (NSHL) in the Saudi Arabian population is genetically heterogeneous and is not caused by mutations in GJB2 and GJB6, the most common genes for deafness in various populations worldwide. We utilized an SNP array-based whole-genome homozygosity mapping approach in search of the causative gene, for the phenotype in a consanguineous Saudi family, with five affected individuals presenting severe to profound congenital NSHL. This is the first report of GIPC3 mutation in a Saudi family. The presence of the GIPC3 mutations in only one of 100 Saudi families with congenital NSHL suggests that it appears to be a rare cause of familial or sporadic deafness in this population.” | 0.95 | saudi_context_rules_v1 |