A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

Neuromuscul Disord. 1992;2(2):117-20. doi: 10.1016/0960-8966(92)90043-6.

Abstract

A total of 161 unrelated Duchenne (DMD) and Becker muscular dystrophy (BMD) patients were screened for deletions in the brain promoter region of the dystrophin gene. Southern blot analysis using a probe for the brain promoter detected a deletion in this region in only one of the DMD families, in a patient with normal intelligence. This deletion also included the promoter of the muscle-type dystrophin and the exons encoding the actin-binding and part of the spectrin-like domains. Our data suggest that deletions in the brain promoter region are rare in DMD and are compatible with normal intelligence.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain / metabolism*
  • Dystrophin / genetics
  • Gene Deletion*
  • Genetic Testing
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Promoter Regions, Genetic / genetics*

Substances

  • Dystrophin