title: Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
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.
authors.affiliation: Department of Pathology and Microbiology, Bristol University, Southmead Hospital, Bristol, UK.
authors.forename: A M
authors.initials: AM
authors.lastname: Cantlay
authors.forename: K
authors.initials: K
authors.lastname: Shokrollahi
authors.forename: J T
authors.initials: JT
authors.lastname: Allen
authors.forename: P W
authors.initials: PW
authors.lastname: Lunt
authors.forename: R A
authors.initials: RA
authors.lastname: Newbury-Ecob
authors.forename: C G
authors.initials: CG
authors.lastname: Steward
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005183:Failure to Thrive / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D008040:Genetic Linkage / Q000235:genetics*; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D016254:Mutagenesis, Insertional / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009503:Neutropenia / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*
chemical_list: D005977:Glutarates; C022034:3-methylglutaconic acid