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

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

Original languageEnglish
Pages (from-to)83-85
Number of pages3
JournalInternational Journal of Cardiology
Volume137
Issue number1
DOIs
Publication statusPublished - Sep 1 2009

Keywords

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

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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  • Cite this

    Itoh, H., Sakaguchi, T., Ashihara, T., Ding, W. G., Nagaoka, I., Oka, Y., Nakazawa, Y., Yao, T., Jo, H., Ito, M., Nakamura, K., Ohe, T., Matsuura, H., & Horie, M. (2009). A novel KCNH2 mutation as a modifier for short QT interval. International Journal of Cardiology, 137(1), 83-85. https://doi.org/10.1016/j.ijcard.2008.05.050