Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study

Am J Hum Genet. 1991 Mar;48(3):468-80.


Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci. Cumulative lod scores suggest that EDMD is approximately 2 cM from DXS52 (lod = 15.67) and very close to the factor VIII (F8C) and the red/green color pigment (R/GCP) loci, with respective lod scores of 9.62 and 10.77, without a single recombinant. Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28. Multipoint linkage analysis indicates that the odds are 2,000:1 that EDMD lies distal to DXS305. These data substantially refine the ability to perform accurate carrier detection, prenatal diagnosis, and the presymptomatic diagnosis of at-risk males for EDMD by linkage analysis. The positioning of the EDMD locus close to the loci for F8C and R/GCP will assist in future efforts to identify and isolate the disease gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping*
  • DNA / analysis
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage*
  • Genetic Markers
  • Genetic Testing
  • Humans
  • Male
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophy, Emery-Dreifuss
  • Pedigree
  • Polymorphism, Genetic
  • Risk Factors
  • X Chromosome / ultrastructure*


  • Genetic Markers
  • DNA