Novel Mutation of Plakophilin-2 Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Iori Nagaoka; Keiji Matsui; Takeshi Ueyama; Masashi Kanemoto; Jie Wu; Akihiko Shimizu; Masunori Matsuzaki; Minoru Horie

doi:10.1253/circj.70.933

Case Report

Novel Mutation of Plakophilin-2 Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Iori Nagaoka, Keiji Matsui, Takeshi Ueyama, Masashi Kanemoto, Jie Wu, Akihiko Shimizu, Masunori Matsuzaki, Minoru Horie

Author information

Iori Nagaoka
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Keiji Matsui
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Takeshi Ueyama
Division of Cardiology, Yamaguchi University Graduated School of Medicine
Masashi Kanemoto
Division of Cardiology, Yamaguchi University Graduated School of Medicine
Jie Wu
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
Akihiko Shimizu
Division of Cardiology, Yamaguchi University Graduated School of Medicine
Masunori Matsuzaki
Division of Cardiology, Yamaguchi University Graduated School of Medicine
Minoru Horie
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science

Keywords: Arrhythmogenic right ventricular cardiomyopathy, Desmosome, Genetic analysis, Plakophilin-2

JOURNAL FREE ACCESS

2006 Volume 70 Issue 7 Pages 933-935

DOI https://doi.org/10.1253/circj.70.933

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Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by dilatation and akinesis of the right ventricle, and causes life-threatening ventricular arrhythmia. Mutations of plakophilin-2 (PKP2) have recently been identified as one causative abnormality in ARVC. A case of ARVC with a mutation of PKP2 is reported here. Direct sequencing of the patient's DNA revealed an insertion mutation in exon 8 of PKP2 (1728_1729insGATG). The mutation caused the frameshift and the premature termination of translation (R577DfsX5). This is the first case report of PKP2 mutation found in Japanese ARVC patients. (Circ J 2006; 70: 933 - 935)

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