A novel KCNH2 mutation as a modifier for short QT interval

Hideki Itoh; Tomoko Sakaguchi; Takashi Ashihara; Wei-Guang Ding; Iori Nagaoka; Yuko Oka; Yuko Nakazawa; Takenori Yao; Hikari Jo; Makoto Ito; Kazufumi Nakamura; Tohru Ohe; Hiroshi Matsuura; Minoru Horie

doi:10.1016/j.ijcard.2008.05.050

A novel KCNH2 mutation as a modifier for short QT interval

Int J Cardiol. 2009 Sep 11;137(1):83-5. doi: 10.1016/j.ijcard.2008.05.050. Epub 2008 Aug 9.

Authors

Hideki Itoh, Tomoko Sakaguchi, Takashi Ashihara, Wei-Guang Ding, Iori Nagaoka, Yuko Oka, Yuko Nakazawa, Takenori Yao, Hikari Jo, Makoto Ito, Kazufumi Nakamura, Tohru Ohe, Hiroshi Matsuura, Minoru Horie

PMID: 18692916
DOI: 10.1016/j.ijcard.2008.05.050

Abstract

In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted 'I(Kr)' channels. This mutation could modify clinical phenotypes for this patient.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Animals
Arrhythmias, Cardiac / diagnosis
Arrhythmias, Cardiac / genetics*
Arrhythmias, Cardiac / physiopathology
Brugada Syndrome / diagnosis
Brugada Syndrome / genetics*
Brugada Syndrome / physiopathology
CHO Cells
Cricetinae
Cricetulus
ERG1 Potassium Channel
Ether-A-Go-Go Potassium Channels / genetics*
Humans
Male
Mutation / genetics*
Pedigree

Substances

ERG1 Potassium Channel
Ether-A-Go-Go Potassium Channels
KCNH2 protein, human