Cystic fibrosis anddistribution and mutation analysis of CFTR gene in Iranian patients

authors:

avatar Mohammad Reza Havasian , avatar Jafar Panahi , avatar Nejat Mahdieh , *

Koomesh: Vol.15, issue 4; 431-440
published online: May 28, 2014
article type: Research Article
received: September 02, 2013
accepted: January 02, 2014

how to cite: Havasian M R, Panahi J, Mahdieh N. Cystic fibrosis anddistribution and mutation analysis of CFTR gene in Iranian patients. koomesh. 2014;15(4):e152879. 

Abstract

 Cystic fibrosis is one of the most lethal multi-system disorders and is the most common autosomal recessive disease in Caucasians. The related protein is named cystic fibrosis transmembrane conductive regulator (CFTR). Various mutations in CFTR gene have been reported to cause CFTR loss of function and diseased phenotype. The most prevalent mutation is ΔF508, deletion of phe at position 508. Here, we briefly explain clinical features and diagnostic methods of the disease firstly, and then the genetics of the disease and its mutations as well as genetic studies in Iranian populations are reviewed. Up to now, totally 56 different mutations have been reported in Iranian patients which 8 of them reported for the first time. Seven common mutations in this population are as follows p.F508del (33.33%), c.1677delTA (7.41%), c.2183_2184delAAinsG (5.56%), p.N1303K (4.81%), c.2789+5G>A (4.44%), p.S466X (4.44%) and p.G542X (4.07%).