Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy

Release time:2017-03-30

Impact Factor:2.57

Journal:Am J Cardiol

Abstract:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, including Desmoplakin, Plakophilin 2, Desmoglein 2, Desmocollin 2, and Junction plakoglobin. In this study,

Note:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, includi

Co-author:Xiang R, Li J J, Fan L L, Liu J S

Indexed by:Unit Twenty Basic Research

Discipline:生物学

Document Type:J

Volume:119

Issue:9

Page Number:1485-1489

ISSN No.:0002-9149

Translation or Not:no

Date of Publication:2017-05-01

Included Journals:SCI

Links to published journals:http://www.sciencedirect.com/science/article/pii/S0002914917301108