Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2

Xuepin Chen; Hui Peng; Chenqing Zheng; Hongmei Zhang; Chao Yan; Huihui Ma; Xiafei Dai; Xiaoping Li

doi:10.1038/s41439-019-0069-3

Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2

Hum Genome Var. 2019 Aug 21:6:38. doi: 10.1038/s41439-019-0069-3. eCollection 2019.

Authors

Xuepin Chen^#^{1

2}, Hui Peng^#³, Chenqing Zheng⁴, Hongmei Zhang², Chao Yan², Huihui Ma², Xiafei Dai², Xiaoping Li^{1

2}

Affiliations

¹ 1Zunyi Medical University, 563000 Zunyi, Guizhou China.
² 2Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, 610072 Chengdu, China.
³ 3Department of Cardiology, Tongde Hospital of Zhejiang Province, 310012 Hangzhou, Zhejiang China.
⁴ Shenzhen Real Omics (Biotech) Co., Ltd, 518081 Shenzhen, China.

^# Contributed equally.

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) presents as the progressive fibrofatty replacement of the cardiomyocytes particularly in the right ventricular wall. Here, we report two cases with ARVC. In family A, the proband carries a Desmoglein2 (DSG2) gene complex heterozygous mutation NM_001943.4:c.146G>A/p.(Arg49His)and NM_001943.3:c.1592T>G/p.(Phe531Cys). In family B, the proband carries a homozygous mutation NM_001943.3:c.1592T>G/p.(Phe531Cys).

Keywords: Genetic variation; Molecular biology.