Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome

J Hum Genet. 2002;47(5):229-31. doi: 10.1007/s100380200030.

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

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyltransferases
  • Cardiomyopathy, Dilated / genetics*
  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • DNA-Binding Proteins / genetics*
  • Glutarates / metabolism
  • Humans
  • Infant
  • Japan
  • Male
  • Muscular Diseases / genetics*
  • Mutation
  • Mutation, Missense / genetics*
  • Neutropenia / genetics*
  • Polymerase Chain Reaction
  • Proteins*
  • Syndrome
  • Transcription Factors / genetics*
  • X Chromosome / genetics*

Substances

  • DNA Primers
  • DNA-Binding Proteins
  • Glutarates
  • Proteins
  • Transcription Factors
  • 3-methylglutaconic acid
  • Acyltransferases
  • TAFAZZIN protein, human