A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
- 1 September 1998
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 20 (1) , 37-42
- https://doi.org/10.1038/1689
Abstract
The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal musculature, with evidence for at least three autosomal dominant and eight autosomal recessive loci. The latter mostly involve mutations in genes encoding components of the dystrophin-associated complex; another form is caused by mutations in the gene for the muscle-specific protease calpain 3. Using a positional cloning approach, we have identified the gene for a form of limb-girdle muscular dystrophy that we previously mapped to chromosome 2p13 (LGMD2B ). This gene shows no homology to any known mammalian gene, but its predicted product is related to the C. elegans spermatogenesis factor fer-1. We have identified two homozygous frameshift mutations in this gene, resulting in muscular dystrophy of either proximal or distal onset in nine families. The proposed name `dysferlin' combines the role of the gene in producing muscular dystrophy with its C. elegans homology.Keywords
This publication has 46 references indexed in Scilit:
- Caveolin-3 in muscular dystrophyHuman Molecular Genetics, 1998
- Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophyNature Genetics, 1998
- Primary adhalinopathy (α‐sarcoglycanopathy)Neurology, 1997
- Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan geneNature Genetics, 1996
- Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular DystrophyScience, 1995
- Muscular Dystrophies—Diseases of the Dystrophin-Glycoprotein ComplexScience, 1995
- β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12Nature Genetics, 1995
- β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complexNature Genetics, 1995
- Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severityNature Genetics, 1995
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987