Referenced in: none

Automatically associated channels: Kv11.1 , Slo1

Title: A novel KCNH2 mutation as a modifier for short QT interval.

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

Journal, date & volume: Int. J. Cardiol., 2009 Sep 11 , 137, 83-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18692916

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.