Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Silvia Bione, Elena Maestrini, Stefano Rivella, Mita Mancini, Stefano Regis, Giovanni Romeo, Daniela Toniolo

Research output: Contribution to journalArticle

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight transcripts expressed at high levels in skeletal muscle, heart and/or brain as the best candidates for the disease. We now report, in all five patients studied, unique mutations in one of the genes, STA: these mutations result in the loss of all or part of the protein. The EDMD gene encodes a novel serine-rich protein termed emerin, which contains a 20 amino acid hydrophobic domain at the C terminus, similar to that described for many membrane proteins of the secretory pathway involved in vesicular transport.

Original languageEnglish
Pages (from-to)323-327
Number of pages5
JournalNature Genetics
Volume8
Issue number4
DOIs
Publication statusPublished - Dec 1994

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G., & Toniolo, D. (1994). Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genetics, 8(4), 323-327. https://doi.org/10.1038/ng1294-323