Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

Details

Serval ID
serval:BIB_85168E77461E
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Journal
American Journal of Human Genetics
Author(s)
Senderek J., Garvey S.M., Krieger M., Guergueltcheva V., Urtizberea A., Roos A., Elbracht M., Stendel C., Tournev I., Mihailova V., Feit H., Tramonte J., Hedera P., Crooks K., Bergmann C., Rudnik-Schöneborn S., Zerres K., Lochmüller H., Seboun E., Weis J., Beckmann J.S., Hauser M.A., Jackson C.E.
ISSN
1537-6605[electronic]
Publication state
Published
Issued date
2009
Peer-reviewed
Oui
Volume
84
Number
4
Pages
511-518
Language
english
Abstract
Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree. Here, we report the identification of a second large VCPDM family of Bulgarian descent and fine mapping of the critical interval. Sequencing of positional candidate genes revealed precisely the same nonconservative S85C missense mutation affecting an interspecies conserved residue in the MATR3 gene in both families. MATR3 is expressed in skeletal muscle and encodes matrin 3, a component of the nuclear matrix, which is a proteinaceous network that extends throughout the nucleus. Different disease related haplotype signatures in the two families provided evidence that two independent mutational events at the same position in MATR3 cause VCPDM. Our data establish proof of principle that the nuclear matrix is crucial for normal skeletal muscle structure and function and put VCPDM on the growing list of monogenic disorders associated with the nuclear proteome.
Pubmed
Web of science
Open Access
Yes
Create date
14/04/2009 8:30
Last modification date
20/08/2019 14:44
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