Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation

Am J Med Genet. 1994 Aug 15;52(2):198-206. doi: 10.1002/ajmg.1320520215.

Abstract

A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits.

Publication types

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

MeSH terms

  • Base Sequence
  • Child
  • Diseases in Twins / genetics*
  • Dosage Compensation, Genetic*
  • Dystrophin / analysis
  • Dystrophin / biosynthesis
  • Dystrophin / genetics
  • Female
  • Gene Expression Regulation
  • Humans
  • In Situ Hybridization
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Sequence Deletion
  • Twins, Monozygotic*

Substances

  • Dystrophin