PubMed 26831020

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , Kv11.1 , Kv7.1

Title: Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family.

Authors: Mari Ichikawa, Seiko Ohno, Yusuke Fujii, Junichi Ozawa, Keiko Sonoda, Megumi Fukuyama, Koichi Kato, Hiromi Kimura, Hideki Itoh, Hideki Hayashi, Minoru Horie

Journal, date & volume: Intern. Med., 2016 , 55, 259-62

PubMed link:

Congenital long QT syndrome (LQTS) is an important cause of sudden cardiac death in young people without any other structural disease. Mutations in the genes encoding the cardiac ion channels or associated proteins have been shown to result in ion channel dysfunction and thereby causing LQTS. We investigated a Japanese family with LQTS for four generations, with the female family members showing severe symptoms. We performed genetic tests for LQTS-related genes and identified a heterozygous KCNH2 mutation (p.K638del). In the family, the KCNH2 mutation had a very high multigenerational inheritance, and female genotype positives showed more severe phenotypes.