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.
Highlights
Emery–Dreifuss muscular dystrophy (EDMD) is a rare genetic disease with an estimated incidence of 3/ 1,000,000 [1]
EDMD is clinically characterized by a triad of (1) slowly progressive scapulo-humero-peroneal muscle weakness at childhood, (2) early joint contractures of the elbow flexors, Achilles tendons, and neck extensors, and (3) cardiomyopathy with conduction block, arrhythmia, such as atrial flutter, which may result in sudden death [2,3,4,5]
Mutation analysis showed a novel hemizygous frameshift mutation (NM_000117.2:c.487delA [p.Ser163fs]) in exon 6 of the EMD gene in the twins. is mutation was validated by Sanger sequencing
Summary
Emery–Dreifuss muscular dystrophy (EDMD) is a rare genetic disease with an estimated incidence of 3/ 1,000,000 [1]. EDMD is clinically characterized by a triad of (1) slowly progressive scapulo-humero-peroneal muscle weakness at childhood, (2) early joint contractures of the elbow flexors, Achilles tendons, and neck extensors, and (3) cardiomyopathy with conduction block, arrhythmia, such as atrial flutter, which may result in sudden death [2,3,4,5]. At least six genes (EMD, LMNA, FHL1, TMEM43, SYNE1, and SYNE2) are associated with EDMD, where EMD and FHL1 are the most familiar [6, 7]. E EMD gene consists of six exons, which are located at Xq28 and encode a protein termed emerin [8]. Emerin is a ubiquitously expressed protein in skeletal and cardiac muscle, and it plays an important role in gene expression, cell signaling, and protein-protein interactions
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