Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Abstract

Mutations in CAV3 gene encoding the protein caveolin-3 are associated with autosomal dominant limb girdle muscular dystrophy 1C, rippling muscle disease, hyperCKemia, distal myopathy, hypertrophic cardiomyopathy and rare autosomal recessive limb girdle muscular dystrophy phenotypes. In a 57-year-old patient with asymmetric limb girdle weakness, we detected a novel homozygous intronic mutation (IVS1 + 2T > C) of the CAV3 gene. This is the first splicing mutation reported for CAV3. These findings add to the clinical and genetic variability of CAV3 mutations.

• Authors: Juliane S Müller, Henriett Piko, Benedikt G H Schoser, Beate Schlotter-Weigel, Peter Reilich, Stefanie Gürster, Christine Born, Veronika Karcagi, Dieter Pongratz, Hanns Lochmüller, Maggie C Walter
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 16 Issue 7 Pg. 432-6 (Jul 2006) ISSN: 0960-8966 [Print] England
• PMID: 16730439 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CAV3 protein, human
• Caveolin 3
• RNA Splice Sites

Topics

• Base Sequence
• Biopsy
• Caveolin 3 (genetics)
• DNA Mutational Analysis
• Family Health
• Female
• Genes, Recessive
• Homozygote
• Humans
• Introns (genetics)
• Magnetic Resonance Imaging
• Middle Aged
• Molecular Sequence Data
• Muscular Dystrophies, Limb-Girdle (genetics, pathology)
• RNA Splice Sites (genetics)