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Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28
L C Adès1, A K Gedeon, M J Wilson
1Medical Genetics, Children's Hospital, Camperdown, New South Wales, Australia.
Insights
Barth syndrome, an X-linked disorder causing heart and muscle issues and neutropenia, was localized to distal Xq28 in a large family. This confirms previous findings and suggests no genetic heterogeneity for this condition.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Background:
- Barth syndrome is a severe X-linked disorder.
- It presents with cardioskeletal myopathy and neutropenia, often fatal in childhood.
- Genetic localization is crucial for understanding disease mechanisms.
Observation:
- A large pedigree with affected males across three generations was studied.
- Affected males exhibited dilated cardiomyopathy, with some showing endocardial fibroelastosis (EFE).
- Genetic linkage analysis was performed using markers in distal Xq28.
Findings:
- The Barth syndrome locus in this family showed close linkage to DXS52.
- The family was nonrecombinant for DXS52 but recombinant for DXS374.
- This localized the Barth syndrome gene distal to DXS374 in Xq28.
Implications:
- This study confirms the distal Xq28 localization of the Barth syndrome gene.
- The findings support the absence of genetic heterogeneity for Barth syndrome.
- Precise genetic localization aids in future research for diagnostics and therapeutics.
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.