Journal article
β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
Neuromuscular disorders : NMD, Vol.8(1), pp.30-38
1998
DOI: 10.1016/S0960-8966(97)00135-1
PMID: 9565988
Abstract
The sarcoglycan complex is involved in the etiology of four autosomal recessive limb-girdle muscular dystrophies (LGMD2C–F). A missense mutation (T151R) in the
β-sarcoglycan gene on chromosome 4q12 has been shown to cause a mild form of LGMD2E in 11 families from a Southern Indiana Amish community sharing a common haplotype. We now report that two sibs from another Amish family with mild LGMD2E are compound heterozygotes for chromosome 4q12 markers. In order to characterize the genetic defect in this new family, we determined the genomic organization of the
β-sarcoglycan gene. A second missense mutation (R91C) has now been identified in this LGMD2E Amish family. This mutation is also present in the homozygous state in another family of probable Amish ancestry. Finally, analysis of all the components of the dystrophin-glycoprotein complex was performed for the first time on a biopsy from a patient homozygous for the
β-sarcoglycan mutation (T151R). Interestingly, in addition to the loss of the entire sarcoglycan complex, we detected a reduction of
α-dystroglycan which suggests a role for the sarcoglycan complex in stabilizing
α-dystroglycan at the sarcolemma.
Details
- Title: Subtitle
- β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
- Creators
- F Duclos - Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City, IA 52242, USAO Broux - CNRS URA 1922, France, Généthon, 91000 Evry, FranceN Bourg - CNRS URA 1922, France, Généthon, 91000 Evry, FranceV Straub - Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City, IA 52242, USAG.L Feldman - Henry Ford Hospital, Department of Medical Genetics, Detroit, MI 48202, USAY Sunada - Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City, IA 52242, USAL.E Lim - Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City, IA 52242, USAF Piccolo - Hopital Cochin Maternités, INSERM U129, 75014 Paris, FranceS Cutshall - Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City, IA 52242, USAF Gary - CNRS URA 1922, France, Généthon, 91000 Evry, FranceF Quetier - CNRS URA 1922, France, Généthon, 91000 Evry, FranceJ.-C Kaplan - Hopital Cochin Maternités, INSERM U129, 75014 Paris, FranceC.E Jackson - Henry Ford Hospital, Department of Medical Genetics, Detroit, MI 48202, USAJ.S Beckmann - CNRS URA 1922, France, Généthon, 91000 Evry, FranceK.P Campbell - Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.8(1), pp.30-38
- Publisher
- Elsevier B.V
- DOI
- 10.1016/S0960-8966(97)00135-1
- PMID
- 9565988
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Language
- English
- Date published
- 1998
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068264202771
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