The study of KCNE1 gene mutations in Iranian LQTS patients

Background and Aim : Long QT syndrome (LQTS) is a rare inherited ventricular arrhythmia characterized by prolonged QT interval in the electrocardiogram or postponement in ventricular repolarization which can result palpitation, syncope, seizure, or sudden death. Previous studies have shown mutations in KCNE1 causing IKs current disturbances due to decreasing of mink protein expression. The genetic studies of LQTS and familial Brugada patients are useful to determine rare KCNE1 gene mutations in affected Iranian families for identification of carriers, people at risk and recognize new therapeutic methods.Methods : In this study, we investigated the KCNE1 gene mutations in 20 Iranian LQTS patients referred to Shahid Rajaee cardiovascular hospital. DNA extraction from peripheral blood was performed, KCNE1 gene was amplified with PCR Technique; direct sequencing was performed to identify possible mutations. Results : The number of affected males was higher (1.5times) with symptoms like syncope with and without stress, palpitation, chest pain and history of LQTS and sudden cardiac death in the family. Two mutations have been found (c.112A> G) and (c.325G> A) that its pathogenicity was reported uncertain clinical significance in clinvar. In comparison with previous studies which describe KCNE1 (c.325G> A) variation with mild phenotype our case has more severe phenotype (LQTS score5, QTC 480)Conclusion : KCNE1 gene variants may be the causal variants in Iranian patients with LQTStype5. Also, it is suggested to investigate the pathogenicity of other KCNE gene family in Iranian patients.

کلیدواژه ها:

Long QT syndrome ، KCNE1 ، Gene