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

Détails

ID Serval
serval:BIB_85168E77461E
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Périodique
American Journal of Human Genetics
Auteur(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]
Statut éditorial
Publié
Date de publication
2009
Peer-reviewed
Oui
Volume
84
Numéro
4
Pages
511-518
Langue
anglais
Résumé
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
Oui
Création de la notice
14/04/2009 9:30
Dernière modification de la notice
08/05/2019 21:21
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