Abstract
Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, short stature, neutropenia, and 3-methylglutaconic aciduria. Mutations have been identified in the TAZ ( G4.5) gene in patients with BTHS. This article presents a mutation analysis of this gene in a Japanese boy with cardiomyopathy with abnormal mitochondria, cyclic neutropenia, and 3-methylglutaconic aciduria (type 2). The analysis revealed a novel missense mutation (R94S) caused by a single nucleotide substitution (C-to-A) in this patient.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acyltransferases
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Cardiomyopathy, Dilated / genetics*
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DNA Mutational Analysis
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DNA Primers / chemistry
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DNA-Binding Proteins / genetics*
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Glutarates / metabolism
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Humans
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Infant
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Japan
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Male
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Muscular Diseases / genetics*
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Mutation
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Mutation, Missense / genetics*
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Neutropenia / genetics*
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Polymerase Chain Reaction
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Proteins*
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Syndrome
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Transcription Factors / genetics*
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X Chromosome / genetics*
Substances
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DNA Primers
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DNA-Binding Proteins
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Glutarates
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Proteins
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Transcription Factors
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3-methylglutaconic acid
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Acyltransferases
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TAFAZZIN protein, human