The Most Common Mutations in the CFTR Gene in the Population of Bosnia and Herzegovina

Abstract

Aims: Cystic fibrosis is an autosomal recessive multisystem disease caused by a mutation of the CFTR gene. To date, more than 1900 mutations of this gene are known. Studies have shown that the most common mutation is delF508. In Bosnia and Herzegovina, the prevalence of individual mutations in the general population has not been thoroughly studied, so this study aimed to determine the prevalence of the mutation concerning the countries of the region and the rest of the world. Study Design: Retrospective study. Place and Duration of Study: Thirty-nine subjects with suspected Cystic fibrosis were referred to the Center for Genetics of the Medical Faculty in Sarajevo between 2018-2020. Methodology: 29 common CFTR gene mutations were analysed with the ELUCIGENE CF29 v2 kit (Elucigene Diagnostics, UK) using four multiplex PCR. Results: The most common mutation in our study was the F508 deletion, present in 14 subjects (73.68%). R347P and G542X mutations were confirmed in two subjects in the heterozygous state in combination with delF508 (M) 5.26% of each of these mutations. 621+1G>T was found in a homozygous state in one subject, while in another, it was in a heterozygous state in combination with delF508(M) mutation, 10.52%. Mutation 2184 delA was found in one subject in the homozygous state with a total frequency of 5.26%. Conclusion: Subjects with cystic fibrosis in Bosnia and Herzegovina are most often carriers of the delF508 mutation. Considering the existence of many mutations and that it is difficult to test them all, targeting the most common mutations in a clinical environment might help in approving therapy, and increasing patients’ quality of life.