Reporting and studying Long QT syndrome Type 5 patient with a mutation in KCNE1 gene

The long-QT syndrome (LQTS) is one of important cardiac arrhythmia that characterized by a prolongation of the QT interval on the electrocardiogram. KCNE1 gene is one of the genes involved in LQT syndrome and cause of LQT syndrome type5. The protein encoded by KCNE1 gene is a single transmembrane protein, KCNE1 and KCNQ1 proteins are assembled to forming potassium channels on heart muscle cells so this inherited condition is the heart s electrical activity disorder since ion channels may not work well. In this study we described a boy with clinical features of LQT syndrome, direct sequencing of genes involved in LQT syndrome revealed a heterozygous missense mutation in KCNE1 gene at position c.29C> T presented at protein level as substitution of Threonine to Methionine amino acid and segregation analysis in his parents confirmed this mutation. We investigated pathogenicity of this mutation with online database and other reported mutations in KCNE1 gene, structural and functional analysis of KCNE1 protein was performed by Phyre2 and I-TASSER database, secondary and 3-dimensional structural of mutant protein was compared with normal structure. All results obtained from bioinformatics tools illustrated role of KCNE1 gene mutations in LQT syndrome. In this family, a mutation in KCNE1 gene was found is responsible for LQT syndrome in their son, so KCNE1 gene mutations in Iranian families are arguable and can be investigated.

کلیدواژه ها:

Long QT syndrome Type 5 ، in silico analysis ، KCNE1 mutations