A novel KCNH2 mutation as a modifier for short QT interval

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

来源：International Journal of Cardiology, 2009, 137(1): 83-85.

DOI：10.1016/j.ijcard.2008.05.050

• Short QT syndrome
• Brugada syndrome
• KCNH2
• Mutation
• Sudden death

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.

• 出版日期2009-9