✦ LIBER ✦

Novel mutations in the emerin gene in Israeli families

✍ Scribed by Yoram Nevo; Sarit Ahituv; Yuval Yaron; Merav Kedmi; Ruth Shomrat; Cyril Legum; Avi Orr-Urtreger

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 34 KB
Volume: 17
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1139

No coin nor oath required. For personal study only.

✦ Synopsis

Emery-Dreifuss Muscular Dystrophy (EMD or EDMD) is a rare X-linked recessive disorder, characterized by progressive muscle wasting and weakness, contractures, and cardiomyopathy, manifesting as heart block. Mutation analysis at the EMD gene locus was performed in 4 unrelated Israeli families with X-linked EMD and in one sporadic case. In the 4 families 4 different mutations were found, 3 of which were novel. These included two frame shift mutations in exon 2 (333delT and 412insA) and one base pair substitution at the consensus +1 donor splice in intron 5 (1429G→ → A). The fourth mutation in exon 6 (1675-1678delTCCG) has been previously described. No mutations were identified in the one sporadic case. Two of the three novel mutations were found in exon 2. A summary of the previously published mutations described in the EMD Mutation Database (http://www.path.cam.ac.uk/emd/ ) as well as the mutations described in our study suggest that the distribution of mutations in EMD gene is not entirely random and that exon 2 is prone to mutations.

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