title: Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
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.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Sakamoto
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Kitoh
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Ohura
authors.forename: Noriaki
authors.initials: N
authors.lastname: Ohya
authors.forename: Kazuie
authors.initials: K
authors.lastname: Iinuma
mesh_terms: D000217:Acyltransferases; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004268:DNA-Binding Proteins / Q000235:genetics*; D005977:Glutarates / Q000378:metabolism; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense / Q000235:genetics*; D009503:Neutropenia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D005977:Glutarates; D011506:Proteins; D014157:Transcription Factors; C022034:3-methylglutaconic acid; D000217:Acyltransferases; C108675:TAFAZZIN protein, human