Two non-contiguous duplications in the DMD gene in a Spanish family

J Neurogenet. 2008 Jan-Mar;22(1):93-101. doi: 10.1080/01677060701686184.

Abstract

DMD and BMD are X-linked myopathy diseases in most cases caused by intragenic deletions, but duplications also appear in a significant number of cases. We present a complex duplication pattern detected by MLPA, a recently formulated method applied here to amplify the 79 exons of the DMD gene. We found a double-duplication in two DMD-affected brothers and in their carrier mother, which consist of two non-contiguous duplications encompassing exons 2 to 7 and exons 50 to 55. Different models are presented to explain formation of this genetic variant.

Publication types

  • Case Reports

MeSH terms

  • Dystrophin / genetics*
  • Female
  • Gene Duplication*
  • Heterozygote
  • Humans
  • Male
  • Models, Genetic
  • Molecular Probe Techniques
  • Muscular Dystrophy, Duchenne / genetics*
  • Pedigree
  • Polymerase Chain Reaction / methods

Substances

  • DMD protein, human
  • Dystrophin