Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28

Am J Med Genet. 1993 Feb 1;45(3):327-34. doi: 10.1002/ajmg.1320450309.


Barth syndrome is an X-linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with endocardial fibroelastosis (EFE) in some. The locus for Barth syndrome in this family was found to be closely linked to DXS52 (z = 2.78, theta = 0.0). The family was nonrecombinant for DXS52 in distal Xq28, but recombinant for DXS374 which maps proximal to DXS52. This localised Barth syndrome distal to DXS374, confirming a previous localisation to distal Xq28. As yet there is no evidence for genetic heterogeneity of Barth syndrome.

Publication types

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

MeSH terms

  • Cardiomyopathies / genetics*
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • DNA / genetics
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Muscular Diseases / genetics*
  • Neutropenia / genetics
  • Pedigree
  • Syndrome
  • X Chromosome*


  • Genetic Markers
  • DNA