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Phenotype
Cystic fibrosis
157articles
157mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
3 records shown · first 60Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.
PMID 37777263 | PMCID PMC10541982 | DOI 10.15537/smj.2023.44.10.20230290 · Saudi medical journal · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1521_1523delCTT | “The 6 most prevalentvariants were as follows: c.1521_1523delCTT (19%), c.1418delG (10.2%), c.579+1G>T (8.8%), c.2988+1G>A (8.8%), c.3419 T>A (7.2%), and c.4124A>C (5.8%).” | 0.95 | hgvs_regex_v1 |
| gene | CFTR | “Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Jeddah | “Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia. OBJECTIVES: To investigate the geographic distribution of common cystic fibrosis (CF) variants in the western and southern regions of Saudi Arabia. METHODS: A retrospective study was conducted on 69 patients diagnosed with CF at King Faisal Specialist Hospital & Research Center, Jeddah. CONCLUSION: This study highlighted features of patients with CF residing in the Western and Southern regions of Saudi Arabia. We also report, for the first time, a novel variant and other CFTR variants that are yet to be reported in Saudi Arabia. These findings could help establish a foundation for cystic fibrosis screening in Saudi Arabia and may assist in clinical diagnosis and prognosis.” | 0.95 | saudi_context_rules_v1 |
The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.
PMID 35573065 | PMCID PMC9072234 | DOI 10.1016/j.ijpam.2021.03.008 · International journal of pediatrics & adolescent medicine · 2022 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1521_1523delCTT | “Four patients (10%) with c.1521_1523delCTT; Exon 11.” | 0.95 | hgvs_regex_v1 |
| gene | CFTR | “The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review. RESULTS: A total of 40 CF confirmed patients were presented with MI. CONCLUSION: CF and meconium ileus are commonly present in CF patients in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.
PMID 33718573 | PMCID PMC7922840 | DOI 10.1016/j.ijpam.2019.12.002 · International journal of pediatrics & adolescent medicine · 2021 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1521_1523delCTT | “In terms of the highest frequency, the c.2988+1G > A (3120+1G > A) variant was found in the eastern province (7.3%) of Saudi Arabia, the c.1418delG (p.Gly473GlufsX54) variant in the northern province (6.8%), the c.579+1G > T (711+1G > T) variant in the southern province (4.8%), the c.3700A > G (p.Ile1234Val) variant in the central province (4.8%), and c.1521_1523delCTT (p.Phe508del) variant in the western province (4.3%).” | 0.95 | hgvs_regex_v1 |
| gene | CFTR | “Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Northern Province | “Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia. INTRODUCTION: Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. OBJECTIVES: To determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia. RESULTS: The ten most common CFTR mutations in the Saudi population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val (12%), 3120+1G > A (11%), 711+1G > T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K (3%), and delExon19-21 (2%) along with other variants 79 (20%). In terms of the highest frequency, the c.2988+1G > A (3120+1G > A) variant was found in the eastern province (7.3%) of Saudi Arabia, the c.1418delG (p.Gly473GlufsX54) variant in the northern province (6.8%), the c.579+1G > T (711+1G > T) variant in the southern province (4.8%), the c.3700A > G (p.Ile1234Val) variant in the central province (4.8%), and c.1521_1523delCTT (p.Phe508del) variant in the western province (4.3%). CONCLUSION: The eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G > A (3120+1G > A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe.” | 0.95 | saudi_context_rules_v1 |