A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy

Xiafei Dai; Rong Luo; Yang Chen; Chenqing Zheng; Yibin Tang; Hongmei Zhang; Ye Su; Tao He; Xiaoping Li

doi:10.1155/2020/2071738

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy

Case Rep Genet. 2020 Aug 24:2020:2071738. doi: 10.1155/2020/2071738. eCollection 2020.

Authors

Xiafei Dai^{1

2}, Rong Luo³, Yang Chen^{1

2}, Chenqing Zheng⁴, Yibin Tang², Hongmei Zhang², Ye Su^{1

2}, Tao He^{1

2}, Xiaoping Li^{1

2}

Affiliations

¹ School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610054, China.
² Department of Cardiology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China.
³ Institute of Cardiovascular Disease, Chengdu Medical College, Chengdu, Sichuan 610500, China.
⁴ Shenzhen RealOmics (Biotech) Co., Ltd., Shenzhen 518081, China.

Abstract

This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery-Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.

Publication types

Case Reports