A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.
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.
Bachou
Theodora
T
First Department of Pediatrics 'A & P Kyriakou' Children's Hospital, Athens.
Giannakopoulos
Aris
A
Trapali
Christina
C
Vazeou
Andriani
A
Kattamis
Antonis
A
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*
D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human