Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability

Neuromuscul Disord. 1992;2(4):269-76. doi: 10.1016/0960-8966(92)90059-f.

Abstract

We report the results of screening for molecular deletions in 164 boys with DMD and BMD and correlation of deletions with clinical features. A deletion was detected in 100 cases (61%) by Southern blot hybridization analysis with cDNA probes. Thirty-eight different deletions and two duplications were identified. All deletions except one (deletion of exons 48-53) found in males with DMD disrupted the translational reading frame of the gene; however, six deletions in boys with BMD were out of frame. The same deletion in different individuals was found to occur with or without mental impairment, and many different deletions were associated with mental retardation. We were able to ascertain a series of boys [from this study and a previous one (Hodgson S V, Hart K, Abbs S, et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet 1989; 26: 682-693)] without significant mental retardation who had deletions which, when combined, covered the whole region of the gene in which deletions are commonly found, and within which region individual deletions can be associated with mental retardation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA / analysis
  • DNA Probes
  • Dystrophin / genetics*
  • Exons / genetics
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Sequence Deletion

Substances

  • DNA Probes
  • Dystrophin
  • DNA