Frequency of Genotype With Δf508 Mutation in Cftr Gene Among Iranian Cystic Fibrosis Patients With Pancreatic Insufficiency Publisher



Khodadad A^{1, 2} ; Elahi E³ ; Hassani SB¹ ; Rouhani P¹ ; Sadeghi B⁴ ; Rezaei N^{4, 5, 6}
Source: Iranian Journal of Pediatrics Published:2015

Abstract

Background: Cystic fibrosis (CF) is the most prevalent lethal autosomal recessive disease with a broad spectrum of phenotypes. Mutation of ΔF508 in the CFTR gene is the most important and lethal mutation in CF, which contains 70% of all predisposing mutations for CF worldwide. Objectives: Determining frequency of genotypes with ΔF508 mutation in CFTR gene, and evaluation of correlation between genotype and phenotype of Iranian patients with CF. Patients and Methods: Thirty six patients were included in this cross sectional study. ΔF508 mutations in both alleles of the CFTR gene were checked. Results: Among 36 pediatric patients, ΔF508 mutation was detected in 9 (25%) patients; 2 patients were heterozygous, and 7 patients homozygous for this mutation. From overall 72 tracked alleles, 11 (15.2%) were found to have ΔF508 mutations. Differences in prevalence of dyspnea and bronchiectasis were significant in homozygote group, compared with non-mutated group for ΔF508. Conclusions: It seems that more ΔF508 mutated alleles lead to more severe symptoms of CF. © 2015, Growth & Development Research Center.