Abstract
We report the first C-terminal missense mutation in a Duchenne muscular dystrophy patient. A G10227A transition of the dystrophin gene was found which resulted in the substitution of a highly conserved cysteine at position 3340 within the second half of the dystroglycan-binding domain. Residual amounts of 427 kDa dystrophin were detected in western blot analysis of the patient's muscle tissue, and immunohistological examination revealed weak traces of dystrophin on all fibers. Sarcolemmal staining intensity of 43 kDa beta-dystroglycan was also reduced. Mental retardation in our patient and absence of the b-wave in his electroretinogram indicate that central nervous functions of dystrophin isoforms also depend on the presence of cysteine 3340.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Binding Sites
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Child
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Cysteine / physiology*
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Cytoskeletal Proteins / analysis
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Cytoskeletal Proteins / metabolism*
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DNA Mutational Analysis
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Dystroglycans
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Dystrophin / analysis
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Dystrophin / genetics*
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Dystrophin / metabolism
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Electroretinography
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Humans
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Intellectual Disability / genetics
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Intellectual Disability / physiopathology
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Male
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Membrane Glycoproteins / analysis
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Membrane Glycoproteins / metabolism*
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Muscle Fibers, Skeletal / chemistry
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Muscle, Skeletal / chemistry
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Muscular Dystrophies / genetics*
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Muscular Dystrophies / physiopathology
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Point Mutation / genetics*
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Retina / physiopathology
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Sarcolemma / chemistry
Substances
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Cytoskeletal Proteins
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DAG1 protein, human
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Dystrophin
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Membrane Glycoproteins
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Dystroglycans
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Cysteine