Clinical and Genetic Features in Patients with Cystic Fibrosis in Southwestern Iran|
Farjadian, Shirin; Moghtaderi, Mozhgan; Kashef, Sara; Alyasin, Soheila; Najib, Khadijehsadat & Saki, Forough
Objective: Cystic fibrosis (CF) is a common autosomal recessive genetic disease caused by a mutation in the
CF transmembrane conductance regulatory (CFTR ) gene. This study attempted to identify the most common
CFTR mutations and any correlations between certain mutations and the clinical presentation of the disease in
CF patients in southwestern Iran.
Methods: Twenty nine common CFTR gene mutations were examined in 45 CF patients.
Findings: Chronic cough, intestinal obstruction, dehydration, heat exhaustion and steatorrhea were the most
common early clinical symptoms among our patients. The most common mutation was ΔF508, with an allele
frequency of 21%. The homozygous ΔF508 mutation was observed in eight patients (18%), and three patients
(7%) were ΔF508 carriers. The 2183AA>G mutation was observed in four patients, one of whom was also a
ΔF508 carrier. The R1162X mutation was detected in two patients. The G542X, R334W and N1303K
mutations were detected each in one patient, the first of whom was also a ΔF508 carrier.
Conclusion: Out of 45 patients, 27 (60%) had none of the CFTR gene mutations we tested for. The most
frequent mutations in southwestern Iranian patients with CF should be identified by sequencing the entire
CFTR gene in order to optimize the design of a diagnostic kit for common regional mutations.
Cystic Fibrosis; CFTR Gene Mutations; Clinical Presentation