AIMS: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In the present study, for the first time, we determined the spectrum of CFTR gene mutations in 100 patients with CF originated from the Iranian Azeri Turkish ethnic group. RESULTS: Here, we report identification of 17 previously known and one novel mutation, namely K1302X, in this cohort. The frequency of deltaF508 mutation was found to be 23%. CONCLUSIONS: Low frequency of deltaF508 mutation and detection of one novel and 16 known mutations reflect a heterogeneous spectrum of the mutations in this ethnic group.
AIMS: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In the present study, for the first time, we determined the spectrum of CFTR gene mutations in 100 patients with CF originated from the Iranian Azeri Turkish ethnic group. RESULTS: Here, we report identification of 17 previously known and one novel mutation, namely K1302X, in this cohort. The frequency of deltaF508 mutation was found to be 23%. CONCLUSIONS: Low frequency of deltaF508 mutation and detection of one novel and 16 known mutations reflect a heterogeneous spectrum of the mutations in this ethnic group.
Authors: O Essawi; M Farraj; K De Leeneer; W Steyaert; K De Pauw; A De Paepe; K Claes; T Essawi; P J Coucke Journal: Dis Markers Date: 2015-01-26 Impact factor: 3.434