Mutations in the caveolin-3 gene: When are they pathogenic?

Flavia De Paula, Mariz Vainzof, Andrea L F Bernardino, Elizabeth McNally, Louis M. Kunkel, Mayana Zatz*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

32 Scopus citations

Abstract

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders usually with autosomal recessive (AR) inheritance and, less often, displaying autosomal dominant (AD) inheritance. Mutations in the caveolin-3 gene (CAV-3) associated with a reduction of protein expression cause AD-LGMD1C muscular dystrophy. Based on a previous study in the American and Brazilian population, it has been suggested that CAV-3 mutations might also cause AR-LGMD. Here we report the analysis of the CAV-3 gene in 61 additional Brazilian LGMD patients and 100 additional Brazilian normal controls. Two rare G55S and C71W missense changes previously detected only in LGMD patients (and not detected in 100 normal controls from the American population) were now found in normal Brazilian controls. In addition, we have identified a novel R125H missense change in one LGMD female patient that was also found in two of her unaffected siblings. These observations, together with the normal immunofluorescence caveolin pattern in the muscle biopsy from two patients with the G55W and R125H changes in the CAV-3 gene suggest that the G55S, C71W, and R125H polymorphisms, on their own, are not sufficient to produce the pathology.

Original languageEnglish (US)
Pages (from-to)303-307
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume99
Issue number4
DOIs
StatePublished - Apr 1 2001

Keywords

  • Caveolin-3 mutations
  • Limbgirdle muscular dystrophy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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