Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
Details
Serval ID
serval:BIB_976C59DDC407
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
Journal
Neurology
ISSN
0028-3878 (Print)
Publication state
Published
Issued date
07/2001
Volume
57
Number
2
Pages
271-8
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jul 24
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jul 24
Abstract
OBJECTIVE: Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). The purpose of this study was to define the genomic organization of the dysferlin gene and conduct mutational screening and a survey of clinical features in 21 patients with defined molecular defects in the dysferlin gene. METHODS: Genomic organization of the gene was determined by comparing the dysferlin cDNA and genomic sequence in P1-derived artificial chromosomes (PACs) containing the gene. Mutational screening entailed conformational analysis and sequencing of genomic DNA and cDNA. Clinical records of patients with defined dysferlin gene defects were reviewed retrospectively. RESULTS: The dysferlin gene encompasses 55 exons spanning over 150 kb of genomic DNA. Mutational screening revealed nine novel mutations associated with MM. The range of onset in this patient group was narrow with a mean of 19.0 +/- 3.9 years. CONCLUSION: This study confirms that the dysferlin gene is mutated in MM and LGMD2B and extends understanding of the timing of onset of the disease. Knowledge of the genomic organization of the gene will facilitate mutation detection and investigations of the molecular biologic properties of the dysferlin gene.
Keywords
Adolescent
Adult
Child
Chromosome Mapping
Exons
Female
Genotype
Humans
Introns
Male
*Membrane Proteins
Muscle Proteins/*genetics
Muscular Dystrophies/*genetics
Mutation/*genetics
Polymorphism, Single-Stranded Conformational
Pubmed
Web of science
Create date
25/01/2008 16:18
Last modification date
20/08/2019 14:59