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

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

Xiafei Dai  1   2 , Chenqing Zheng  3 , Xuepin Chen  2   4 , Yibin Tang  2 , Hongmei Zhang  2 , Chao Yan  1   2 , Huihui Ma  1   2 , Xiaoping Li  1   2
Affiliations

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

Xiafei Dai et al. Hum Genome Var. .

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.

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Conflict of interest statement

Conflict of interestThe authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1. Genomic DNA sequence chromatogram of the proband and his parents.
DNA sequence chromatogram of the father as a control. The patient and his mother’s DNA sequence chromatogram indicate NM_000117.2:c.251_255del (p.Leu84Profs*7) in the EMD gene. The arrow indicates the position of the TCTAC deletions
See this image and copyright information in PMC

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