Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Nat Genet. 1992 Sep;2(1):26-30. doi: 10.1038/ng0992-26.


Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which maps to chromosome 4qter, distal to the D4S139 locus. The cosmid clone 13E, isolated in a search for homeobox genes, was subsequently mapped to 4q35, also distal to D4S139. A subclone, p13E-11, detects in normal individuals a polymorphic EcoRI fragment usually larger than 28 kilobases (kb). Surprisingly, using the same probe we detected de novo DNA rearrangements, characterized by shorter EcoRI fragments (14-28 kb), in 5 out of 6 new FSHD cases. In 10 Dutch families analysed, a specific shorter fragment between 14-28 kb cosegregates with FSHD. Both observations indicate that FSHD is caused by independent de novo DNA rearrangements in the EcoRI fragment detected by p13E-11.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Cosmids
  • DNA / genetics*
  • DNA Probes
  • Female
  • Gene Rearrangement
  • Genes, Dominant
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • DNA Probes
  • DNA