Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy

被引：23
|
作者：
Nagaoka, Iori
Matsui, Keiji
Ueyama, Takeshi
Kanemoto, Masashi
Wu, Jie
Shimizu, Akihiko
Matsuzaki, Masunori
Horie, Minoru
机构：
[1] Shiga Univ Med Sci, Dept Cardiovasc & Resp Med, Otsu, Shiga 5202192, Japan
[2] Yamaguchi Univ, Grad Sch Med, Div Cardiol, Ube, Yamaguchi 755, Japan
来源：
CIRCULATION JOURNAL | 2006年 / 70卷 / 07期
关键词：
arrhythmogenic right ventricular cardiomyopathy; desmosome; genetic analysis; plakophilin-2;
D O I：
10.1253/circj.70.933
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：933 / 935
页数：3
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