ArticleJournal of medical genetics1997
Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 58 citations in OpenAlex.
- 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
- Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations.Saudi medical journal · 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
- Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022Review
- 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 Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.Balkan medical journal · 2021Article
- Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.International journal of pediatrics & adolescent medicine · 2021Article
- Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions.Multidisciplinary respiratory medicine · 2019Review
- Cystic fibrosis prevalence among a group of high-risk children in the main referral children hospital in Iran.Journal of education and health promotion · 2017Article
- The road for survival improvement of cystic fibrosis patients in Arab countries.International journal of pediatrics & adolescent medicine · 2015Review
- Profile of cystic fibrosis in a single referral center in Egypt.Journal of advanced research · 2014Article
- Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran.Journal of reproduction & infertility · 2014Article
- Cystic Fibrosis testing among Arab-Americans.Genetics in medicine : official journal of the American College of Medical Genetics · 2006Article
- A haplotype framework for cystic fibrosis mutations in Iran.The Journal of molecular diagnostics : JMD · 2006Article
- Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.Annals of Saudi medicineArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
More than 600 different CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations have been identified so far that are considered to cause the fatal genetic disorder cystic fibrosis (CF). We have investigated 15 Arab children from 12 families, who were diagnosed as having CF, for mutations in the coding region and in the flanking intron sequences of the CFTR gene. Six different CFTR mutations were identified including two novel mutations, 1548delG in exon 10 and 406-2A-->G in intron 3. Prominent mutations were the splice mutation 3120 + 1G-->A (intron 16) followed by N1303K (exon 21) and 1548delG (exon 10). Most CF children were homozygotes who presented with a severe form of the disease including failure to thrive, recurrent chest infections, particularly with Pseudomonas aeruginosa, and frequent hospital admissions. Identification of the CFTR mutations facilitates molecular investigation of the disease and better understanding of its pathophysiology in Arab children, among whom CF is probably an underdiagnosed disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.