Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28
- 1 February 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (3), 327-334
- https://doi.org/10.1002/ajmg.1320450309
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 non‐recombinant 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.Keywords
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