Characterization of two nonsense mutations in the human dystrophin gene
Language English Country England, Great Britain Media print
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
- MeSH
- Point Mutation * MeSH
- Child MeSH
- Dystrophin genetics MeSH
- Electrophoresis, Polyacrylamide Gel MeSH
- Humans MeSH
- Intellectual Disability complications genetics MeSH
- Polymerase Chain Reaction MeSH
- Polymorphism, Single-Stranded Conformational MeSH
- Muscular Dystrophies complications genetics MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Dystrophin MeSH
Forty Duchenne muscular dystrophy patients from the province of Moravia in the Czech Republic, who were previously found negative for large deletions in the dystrophin gene, were tested for the presence of point mutations in selected exons. Besides several intron and exon polymorphisms, two cases of nonsense mutations were detected in exon 70, thus causing the loss of the C-terminal domain of dystrophin. One of these, the mutation, S3365X, is newly reported here while the other, R3381X, has been described previously. These mutations, only 16 bp distant from each other, have a very different impact on the mental abilities of the corresponding patients.
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