Mutation of plakophUin-2 gene in arrhythmogenic right ventricular cardiomyopathy

作     者：WU Shu-lin WANG Pei-ning HOU Yue-shuang ZHANG Xu-chao SHAN Zhi-xin YU Xi-yong DENG Mei 

作者机构：Department of Cardiology Guangdong General HospitalGuangdong Provincial Cardiovascular Institute GuangzhouGuangdong 510080 China Research Center of Guangdong Academy of Medical ScienceGuangdong General HospitalGuangdong Provincial Cardiovascular Institute GuangzhouGuangdong 510080 China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2009年第122卷第4期

页      面：403-407页

核心收录：

学科分类：1007[医学-药学(可授医学、理学学位)] 100705[医学-微生物与生化药学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 100103[医学-病原生物学] 10[医学] 

基　　金：This study was supported by a grant from Guangdong Provincial Medical Research Foundation in 2008 (No.A2008054) 

主　　题：arrhythmogenic right ventricular cardiomyopathy plakophilin-2 gene mutation 

摘      要：Background Arrhythmogenic right ventricular cardiomyopathy （ARVC） is one of the leading causes of sudden cardiac death. Recent studies have shown that ARVC, which is an inheritable genetic change, results from mutations in genes encoding desmosomal proteins. Plakophilin-2 is an important component of the desmosome. Because the full range of genetic variations related to ARVC is unknown and no related studies of the Chinese population have been reported, we aimed to investigate the genetic variation of plakophilin-2 in ARVC patients from the Southern Region of China. Methods Genomic DNA was isolated from peripheral blood samples of all 34 ARVC patients, who were screened through a clinical evaluation. They were used to detect variations in the sequences of the plakophilin-2 genes by polymerase chain reaction amplification in combination with direct sequencing. Results In exon-1 of the plakophilin-2 gene, a deletion mutation （c.145_148 del GACA） was found in one family pedigree. The mutation was also found in exon-2, 4, and 11 of the plakophilin-2 gene. The QT interval dispersion of the ECG was considerably longer in the mutation group than in the non-mutation group of ARVC patients, and this result was statistically significant （P 〈0.05）. Conclusion We discovered a plakophilin-2 mutation that prolongs the QT interval dispersion in the southern Chinese ARVC population.