Journal article
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
Journal of medical genetics, Vol.34(6), pp.470-475
06/1997
DOI: 10.1136/jmg.34.6.470
PMCID: PMC1050969
PMID: 9192266
Abstract
Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive muscular dystrophies in which the primary defect may reside in any of the genes coding for the different partners of the sarcolemmal sarcoglycan (SG) complex: the alpha-SG (LGMD2D at 17q21.2), the beta-SG (LGMD2E at 4q12), the gamma-SG (LGMD2C at 13q12), and the delta-SG (LGMD2F at 5q33). We report a series of 20 new unrelated families with 14 different mutations in the alpha-SG gene. Along with the mutations that we previously reported this brings our cohort of patients with alpha-sarcoglycanopathy to a total of 31 unrelated patients, carrying 25 different mutations. The missense mutations reside in the extracellular domain of the protein. Five of 15 missense mutations, carried by unrelated subjects on different haplotype backgrounds and of widespread geographical origins, account for 58% of the mutated chromosomes, with a striking prevalence of the R77C substitution (32%). The severity of the disease varies strikingly and correlates at least in part with the amount of residual protein and the type of mutation. The recurrent R284C substitution is associated with a benign disease course.
Details
- Title: Subtitle
- Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
- Creators
- A Carrié - INSERM 129, Université Paris V, FranceF Piccolo - INSERM 129, Université Paris V, FranceF Leturcq - INSERM 129, Université Paris V, FranceC de Toma - INSERM 129, Université Paris V, FranceK Azibi - INSERM 129, Université Paris V, FranceC Beldjord - INSERM 129, Université Paris V, FranceJ M Vallat - INSERM 129, Université Paris V, FranceL Merlini - INSERM 129, Université Paris V, FranceT Voit - INSERM 129, Université Paris V, FranceC Sewry - INSERM 129, Université Paris V, FranceJ A Urtizberea - INSERM 129, Université Paris V, FranceN Romero - INSERM 129, Université Paris V, FranceF M Tomé - INSERM 129, Université Paris V, FranceM Fardeau - INSERM 129, Université Paris V, FranceY Sunada - INSERM 129, Université Paris V, FranceK P Campbell - INSERM 129, Université Paris V, FranceJ C Kaplan - INSERM 129, Université Paris V, FranceM Jeanpierre - INSERM 129, Université Paris V, France
- Resource Type
- Journal article
- Publication Details
- Journal of medical genetics, Vol.34(6), pp.470-475
- DOI
- 10.1136/jmg.34.6.470
- PMID
- 9192266
- PMCID
- PMC1050969
- NLM abbreviation
- J Med Genet
- ISSN
- 0022-2593
- eISSN
- 1468-6244
- Language
- English
- Date published
- 06/1997
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068260702771
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