title: A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.
abstract: Barth Syndrome (BTHS) is a rare X-linked recessive inborn error of metabolism, which is characterized by dilated cardiomyopathy, neutropenia, skeletal myopathy and short stature. Barth Syndrome is associated with mutations in the tafazzin (TAZ) gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. Here we report a 5.5-month old boy with BTHS phenotype who carries a novel missense T43P mutation in exon 2 of the TAZ gene.
authors.affiliation: First Department of Pediatrics 'A & P Kyriakou' Children's Hospital, Athens.
authors.forename: Theodora
authors.initials: T
authors.lastname: Bachou
authors.forename: Aris
authors.initials: A
authors.lastname: Giannakopoulos
authors.forename: Christina
authors.initials: C
authors.lastname: Trapali
authors.forename: Andriani
authors.initials: A
authors.lastname: Vazeou
authors.forename: Antonis
authors.initials: A
authors.lastname: Kattamis
mesh_terms: D000217:Acyltransferases; D000328:Adult; D019943:Amino Acid Substitution; D009202:Cardiomyopathies / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005838:Genotype; D006115:Greece; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009503:Neutropenia / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D013577:Syndrome; D014157:Transcription Factors / Q000172:deficiency / Q000235:genetics*
chemical_list: D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human