Referenced in: none

Automatically associated channels: Kv7.1

Title: Novel mutations of KCNQ1 in Long QT syndrome.

Authors: Sameera F Qureshi, Altaf Ali, Venkateshwari Ananthapur, M P Jayakrishnan, Narasimhan Calambur, Kumarasamy Thangaraj, Pratibha Nallari

Journal, date & volume: Indian Heart J, 2013 Sep-Oct , 65, 552-60

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24206879

Abstract
Autosomal recessive Long QT syndrome is characterized by prolonged QTc along with congenital bilateral deafness depends on mutations in K(+) channel genes. A family of a Long QT syndrome proband from India has been identified with novel indel variations.The molecular study of the proband revealed 4 novel indel variations in KCNQ1. In-silico analysis revealed the intronic variations has led to a change in the secondary structure of mRNA and splice site variations. The exonic variations leads to frameshift mutations. DNA analysis of the available family members revealed a carrier status.It is thus predicted that the variations may lead to a change in the position of the splicing enhancer/inhibitor in KCNQ1 leading to the formation of a truncated S2-S3 fragment of KCNQ1 transmembrane protein in cardiac cells as well as epithelial cells of inner ear leading to deafness and aberrant repolarization causing prolonged QTc.