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

L. C. Ades, A. K. Gedeon, M. J. Wilson, M. Latham, M. W. Partington, J. C. Mulley, J. Nelson, K. Lui, D. O. Sillence

Research output: Contribution to journalArticle

84 Citations (Scopus)

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, θ = 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.

Original languageEnglish
Pages (from-to)327-334
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume45
Issue number3
DOIs
Publication statusPublished - 2 Feb 1993

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