Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

Xiafei Dai; Chenqing Zheng; Xuepin Chen; Yibin Tang; Hongmei Zhang; Chao Yan; Huihui Ma; Xiaoping Li

doi:10.1038/s41439-019-0072-8

Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

Hum Genome Var. 2019 Sep 3:6:42. doi: 10.1038/s41439-019-0072-8. eCollection 2019.

Authors

Xiafei Dai^{1

2}, Chenqing Zheng³, Xuepin Chen^{2

4}, Yibin Tang², Hongmei Zhang², Chao Yan^{1

2}, Huihui Ma^{1

2}, Xiaoping Li^{1

2}

Affiliations

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

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: c.251_255del (p.Leu84Profs*7)] in exon 3 of the emerin gene (EMD) was identified.

Keywords: Cardiovascular diseases; Rare variants.