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

S. Bione, K. Small, V. M A Aksmanovic, M. D'Urso, A. Ciccodicola, L. Merlini, L. Morandi, W. Kress, J. R W Yates, S. T. Warren, D. Toniolo

Research output: Contribution to journalArticle

Abstract

The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characterized by early contractures of the elbows. Achilles tendons and postcervical muscles, slowly progressing muscle wasting and weakness and a cardiomyopathy 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-linked STA gene and one unidentified autosomal gene, are responsible for the disease.

Original languageEnglish
Pages (from-to)1859-1863
Number of pages5
JournalHuman Molecular Genetics
Volume4
Issue number10
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

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    Bione, S., Small, K., Aksmanovic, V. M. A., D'Urso, M., Ciccodicola, A., Merlini, L., Morandi, L., Kress, W., Yates, J. R. W., Warren, S. T., & Toniolo, D. (1995). Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Human Molecular Genetics, 4(10), 1859-1863.