title: Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.
abstract: 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.
authors.affiliation: Medical Genetics, Children's Hospital, Camperdown, New South Wales, Australia.
authors.forename: L C
authors.initials: LC
authors.lastname: Adès
authors.forename: A K
authors.initials: AK
authors.lastname: Gedeon
authors.forename: M J
authors.initials: MJ
authors.lastname: Wilson
authors.forename: M
authors.initials: M
authors.lastname: Latham
authors.forename: M W
authors.initials: MW
authors.lastname: Partington
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: J
authors.initials: J
authors.lastname: Nelson
authors.forename: K
authors.initials: K
authors.lastname: Lui
authors.forename: D O
authors.initials: DO
authors.lastname: Sillence
mesh_terms: D009202:Cardiomyopathies / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D009503:Neutropenia / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA