Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Abstract

Cystic fibrosis is the most common heredity disease among the Caucasian population. More than 350 known pathogenic variations in the CFTR gene (NM_000492.4) cause cystic fibrosis. Herein, we report the outcome of our investigation of two unrelated Iranian families with cystic fibrosis patients. We conducted phenotypic examination, segregation, and linkage analysis, and CFTR gene sequencing to define causative mutations. Two novel mutations were found. One was a deletion causing frameshift, c.299delT p.(Leu100Profs*7) and the second one was a missense mutation, c.1857G>T at nucleotide binding domain 1 of the CFTR protein. Haplotype segregation data supported our new mutation findings. These findings expand the spectrum of CFTR pathogenic variations and can improve prenatal diagnosis and genetic counseling for cystic fibrosis.