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© 1995 Oxford University Press

OTHER

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

Silvia Blone, Kersten Small1, Veronica M.A. Aksmanovic2, Michele D'Urso3, Alfredo Ciccodicola3, Luciano Merlini4, Lucia Morandi5, Wolfram Kress6, John R.W. Yates2, Steve T. Warren1 and Daniela Toniolo*

Istituto di Genetica Biochimica ed Evoluzionistica CNR, 27100 Pavia, Italy 1Department of Biochemistry and Pediatrics, Emory University School of Medicine Atlanta GA30322, USA 2Department of Pathology, Cambndge University Cambridge CB2 1QP, UK 3Instituo Internazionale di Genetica e Biofisica CNR, 80125 Napoli 4Instituo Ortopedico Rizzoli 40136 Bologna 5Instituo Neurologico Besta Milano, Italy 6Institute for Napoli, Human Genetics, University of Wurzburg Germany

*To whom correspondence should be addressed

Received May 11, 1995; Revised July 4, 1995; Accepted July 4, 1995

The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characte ized by early contractures of the elbows, Achilles tendons and postcervical muscles, slowly progressing muscle wasting and weakness and a cardio myopathy characterized by conduction defects. Heart block is a frequent cause of death. Finding of mutations in one of the transcripts in the critical region in distal Xq28 led to the identification of the gene responsible for the disease. We now report the sequence of the gene which is 2100 bp long and the development of a set of primers to amplify and sequence the gene from patients' DNA. Eight unrelated X-linked familial cases were studied and they all carried different mutations, showing that lack of emerin in cardiac and skeletal muscle is the cause of the X-linked disease. No mutations were found in a family where the female carrier was affected nor in a sporadic case with a well established diagnosis of EDMD. Our findings suggest genetic heterogeneity of EDMD, and that at least two genes, the X-iinked STA gene and one unidentified autosomal gene, are responsible for the disease.


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