Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

C. Minetti, F. Sotgia, C. Bruno, P. Scartezzini, P. Broda, M. Bado, E. Masetti, M. Mazzocco, A. Egeo, M. A. Donati, D. Volonte, F. Galbiati, G. Cordone, F. D. Bricarelli, M. P. Lisanti, F. Zara

Research output: Contribution to journalArticlepeer-review

Abstract

Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q11-21. Here we describe eight patients from two different families with a new form of autosomal dominant LGMD, which we propose to call LGMD1C, associated with a severe deficiency of caveolin-3 in muscle fibres. Caveolin-3 (or M-caveolin) is the muscle-specific form of the caveolin protein family, which also includes caveolin-1 and -2 (refs 4-9). Caveolins are the principal protein components of caveolae (50-100 nm invaginations found inmost cell types) which represent appendages or sub- compartments of plasma membranes. We localized the human caveolin-3 gene (CAV3) to chromosome 3p25 and identified two mutations in the gene: a missense mutation in the membrane-spenning region and a micro-deletion in the scaffolding domain. These mutations may interfere with caveolin-3 oligomerization and disrupt caveolae formation at the muscle cell plasma membrane.

Original languageEnglish
Pages (from-to)365-368
Number of pages4
JournalNature Genetics
Volume18
Issue number4
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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