R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.

ABSTRACT:

Background

Loss-of-function mutations in the gene KCNQ1 encoding the Kv7.1 K(+) channel cause long QT syndrome type 1 (LQT1), whereas gain-of-function mutations are associated with short QT syndrome as well as familial atrial fibrillation (FAF). However, KCNQ1 mutation pleiotropy, which is capable of expressing both LQT1 and FAF, has not been demonstrated for a discrete KCNQ1 mutation. The genotype-phenotype relationship for a family with FAF suggests a possible association with the LQT1 p.Arg231Cys-KCNQ1 (R231C-Q1) mutation.

Objective

The purpose of this study was to determine whether R231C-Q1 also can be linked to FAF.

Methods

The R231C-Q1 proband with AF underwent genetic testing for possible mutations in 10 other AF-linked genes plus KCNH2 and SCN5A. Sixteen membe

SUBMITTER: Bartos DC 

PROVIDER: S-EPMC3706092 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature