Molecular Screening of R117H (c.350G>A; p.Arg117His) Mutation in Non Caucasian Cystic Fibrosis Patients from North of Iran

Submitted 24 Sep 2015; Accepted 17 Oct 2015; Published 20 Dec 2015 Cystic fibrosis (CF) is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution among different populations. In this study, missense mutation R117H (c.350G>A; p.Arg117His) was analyzed in CF patients. Fifty five non relative Iranian CF patients aged between four months to eighteen years old living in the north of Iran, Mazandaran province were screened for clinical presentation and also for R117H mutation in CFTR gene by reverse dot blot method. The most clinical presentation was pulmonary disorder and none of the patients had R117H mutation. Further investigation of this mutation in a larger number of patients and/or infertile male subjects is recommended in this population.