Abstract
Mutations have recently been identified in the G4.5 gene (Xq28), encoding the tafazzin protein, in patients with Barth syndrome. We performed mutational analysis in 5 families with suspected Barth syndrome. In 4 families a male child had all the cardinal features of this syndrome, and mutations of G4.5 were found in each case. A mutation was also found in a fifth family with an extensive history of early infant death from heart disease. The recognition of 5 unrelated families in 1 hospital during a 7-year period suggests that this disease may be underdiagnosed.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Cardiomyopathy, Dilated / diagnosis*
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Cardiomyopathy, Dilated / genetics*
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Cardiomyopathy, Dilated / metabolism
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DNA Mutational Analysis*
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Failure to Thrive / diagnosis*
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Failure to Thrive / genetics*
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Failure to Thrive / metabolism
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Genetic Linkage / genetics*
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Glutarates / urine*
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Humans
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Infant
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Infant, Newborn
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Male
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Mitochondrial Myopathies / diagnosis
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Mitochondrial Myopathies / genetics
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Mitochondrial Myopathies / metabolism
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Mutagenesis, Insertional / genetics*
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Mutation, Missense / genetics*
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Neutropenia / diagnosis*
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Neutropenia / genetics*
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Neutropenia / metabolism
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Pedigree
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Syndrome
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X Chromosome / genetics*
Substances
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Glutarates
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3-methylglutaconic acid