title: Characterization of two nonsense mutations in the human dystrophin gene.
abstract: 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.
mesh_terms: D002648:Child; D016189:Dystrophin / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational