ArticleInternational journal of pediatrics & adolescent medicine2021
Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.
Article in International journal of pediatrics & adolescent medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Single-Center Experience in Pediatric Lung Transplantation: Clinical Characteristics, Survival, and Post-Transplant Morbidity.Pediatric transplantation · 2026Article
- Unveiling the heritability of selected unexplored pharmacogenetic markers in the Saudi population.Frontiers in pharmacology · 2025Article
- A severe early presentation of cystic fibrosis in an infant with a homozygous c.1375_1383del CFTR variant- a case report.Frontiers in pediatrics · 2025Article
- Assessing respiratory therapists' compliance with cystic fibrosis guidelines in Saudi Arabia: A descriptive quantitative study.Canadian journal of respiratory therapy : CJRT = Revue canadienne de la therapie respiratoire : RCTR · 2025Article
- Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in two siblings with homozygous I1234V mutation cystic fibrosis: A prospective case series.Respiratory medicine case reports · 2025Article
- Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden.Human genomics · 2024Article
- Exploring the dynamics of mixed-species biofilms involving Candida spp. and bacteria in cystic fibrosis.Archives of microbiology · 2024Review
- Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.Saudi medical journal · 2023Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022Review
- Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia.International journal of pediatrics & adolescent medicine · 2022Article
- Insights into National Laboratory Newborn Screening and Future Prospects.Medicina (Kaunas, Lithuania) · 2022Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.
objectivesTo determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia. METHODOLOGY: A retrospective chart review of all CFTR variants conducted from January 1, 1992 to December 1, 2017.
resultsThe 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%).
conclusionThe 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. Proper family screening and counseling should be emphasized.
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