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Case Reports
. 2020 Aug 24:2020:2071738.
doi: 10.1155/2020/2071738. eCollection 2020.

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

Xiafei Dai  1   2 , Rong Luo  3 , Yang Chen  1   2 , Chenqing Zheng  4 , Yibin Tang  2 , Hongmei Zhang  2 , Ye Su  1   2 , Tao He  1   2 , Xiaoping Li  1   2
Affiliations
Case Reports

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

Xiafei Dai et al. Case Rep Genet. .

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.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1
Pedigree structure. Square: male; circle: female; black square: affected; white circle/square: unaffected; white circle/square with a black dot: carrier. The arrow indicates the proband. ∗Sequenced family members.
Figure 2
Figure 2
ECGs of the pedigree (II-2, III-1, III-2, and III-3). (a) III-1 was normal. (b) II-2 was normal. (c) III-3 showed second-degree atrioventricular block and bradycardia. (d) An ECG of III-2 showed atrial flutter and third-degree atrioventricular block before the operation. (e) An ECG of III-2 showed a junctional escape rhythm, third-degree atrioventricular block.
Figure 3
Figure 3
Echocardiography of the proband. (a) Right atrium (59 × 57 mm). (b) Right ventricle (50 mm). (c) Left atrium (54 × 44 mm).
Figure 4
Figure 4
Sanger sequencing DNA chromatogram of the pedigree (II-2, III-1, III-2, and III-3). (a) III-1 was normal. (b) II-2 presented with a heterozygous frameshift mutation (c.487delA, p.Ser163fs). (c) III-2 and III-3 showed a hemizygous frameshift mutation (c.487delA, p.Ser163fs).
See this image and copyright information in PMC

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