ArticleAnnals of Saudi medicine
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Article in Annals of Saudi medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Single-Center Experience in Pediatric Lung Transplantation: Clinical Characteristics, Survival, and Post-Transplant Morbidity.Pediatric transplantation · 2026Article
- Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.Frontiers in public health · 2026Article
- CFTR mutations and genotypic patterns among cystic fibrosis patients with allergic bronchopulmonary aspergillosis: analysis from a tertiary care center in Saudi Arabia.Frontiers in pediatrics · 2026Article
- 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
- Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.Molecular genetics and genomics : MGG · 2024Article
- 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
- Article
- Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade.Frontiers in genetics · 2023Article
- Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022Review
- Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.Diagnostics (Basel, Switzerland) · 2022Article
- Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic AnalysisIranian biomedical journal · 2022Article
- Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia.International journal of pediatrics & adolescent medicine · 2022Article
- The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.International journal of pediatrics & adolescent medicine · 2022Article
- Article
- First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.Qatar medical journal · 2021Article
- Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.International journal of molecular sciences · 2020Article
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9 authors.
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Abstract
backgroundCystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles.
objectiveDetermine the pattern of CFTR variants in the CF population of Saudi Arabia.
designA retrospective, descriptive.
settingTertiary care center. PATIENTS AND
methodsWe examined the medical records of 396 confirmed CF patients of all age groups that were positive for a CFTR variant from the period of 1 January 1998 to 1 December 2017.
main outcome measuresZygosity, morbidity and mortality patterns of different types of CFTR variants. SAMPLE SIZE: 312 families that included 396 patients.
resultsOf 48 variants identified, 6 were novel, having not been described in the medical literature. A homozygous state was found in 283 families (90.7%) and compound heterozygosity in 23 (7.4%). Six families were heterozygous (1.9%). Median age (interquartile range) was 10.2 months (4.4 months to 5.7 years) at diagnosis and 9.7 (5.4-16.5) years at follow up. Of 396 patients, 378 patients (95.5%) survived and 18 (4.5%) died. The ten most common variants identified in descending frequency were: p.Gly473GlufsX54 in 98 alleles (16%), p.Ile1234Val in 66 alleles (11%), F508del in 64 alleles (11%), 711+1G>T in 62 alleles (10%), 3120+1G>A in 62 alleles (11%), p.His139Leuin 38 alleles (6.4%), p.Gln637Hisfs in 30 alleles (5.2%), p.Ser549Arg in 27 alleles (4.5%), p.Asn1303Lys in 14 alleles (2.3%), delExon19-21in 10 alleles (1.6%). This analysis identified 79.2% of our CFTR variants.
conclusionCFTR mutational patterns in our CF population are characterized by a high allelic heterogeneity. The high prevalence of homozygous variants reflects the high level of consanguinity between parents. LIMITATIONS: Our CFTR screening reflected only about 80% of CF patients in Saudi Arabia. CONFLICT OF INTEREST: None.
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