Referenced in: none

Automatically associated channels: Kv7.1

Title: Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation.

Authors: M Teresa Viadero, Esther Rubín, Teresa Amigo, Domingo González-Lamuño

Journal, date & volume: Pediatr Cardiol, 2011 Jan , 32, 102-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20981542

Abstract
This report describes a three-generation family with a severe phenotype of long-QT syndrome-1 (LQTS-1) caused by a single nucleotide mutation in the KQT-like, voltage-gated potassium channel-1 gene (KCNQ1; MIM 607542). Two members of the family died suddenly in their childhood, and all eight surviving members with prolonged QT have a heterozygous missense mutation resulting in a glycine-to-glutamate amino acid substitution at position 316 of the potassium channel. In this family, the newly reported mutation, guanine-to-adenosine at position 947 in the KCNQ1 gene, exhibits a dominant trait of LQTS with complete penetrance, in contrast to the relatively reduced clinical penetrance found in most LQTS cases.