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

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

Research output: Contribution to journal › Article › peer-review

38 Citations (Scopus)

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.

Original language	English
Pages (from-to)	83-85
Number of pages	3
Journal	International Journal of Cardiology
Volume	137
Issue number	1
DOIs	https://doi.org/10.1016/j.ijcard.2008.05.050
Publication status	Published - Sept 2009

Keywords

Brugada syndrome
KCNH2
Mutation
Short QT syndrome
Sudden death

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.ijcard.2008.05.050

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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 'IKr' channels. This mutation could modify clinical phenotypes for this patient.",

keywords = "Brugada syndrome, KCNH2, Mutation, Short QT syndrome, Sudden death",

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T1 - A novel KCNH2 mutation as a modifier for short QT interval

AU - Itoh, Hideki

AU - Sakaguchi, Tomoko

AU - Ashihara, Takashi

AU - Ding, Wei Guang

AU - Nagaoka, Iori

AU - Oka, Yuko

AU - Nakazawa, Yuko

AU - Yao, Takenori

AU - Jo, Hikari

AU - Ito, Makoto

AU - Nakamura, Kazufumi

AU - Ohe, Tohru

AU - Matsuura, Hiroshi

AU - Horie, Minoru

PY - 2009/9

Y1 - 2009/9

N2 - 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 'IKr' channels. This mutation could modify clinical phenotypes for this patient.

AB - 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 'IKr' channels. This mutation could modify clinical phenotypes for this patient.

KW - Brugada syndrome

KW - KCNH2

KW - Mutation

KW - Short QT syndrome

KW - Sudden death

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A novel KCNH2 mutation as a modifier for short QT interval

Abstract

Keywords

ASJC Scopus subject areas

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