title: A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.
abstract: A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous frame shift mutation in his TAZ gene, c.227delC (p.Pro76LeufsX7), which was inherited from his mother. Herein, we report a patient with Barth syndrome who had a novel mutation in TAZ gene and experienced unexpected acute exacerbation after contrast dye injection for computed tomographic angiography.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Gi Beom
authors.initials: GB
authors.lastname: Kim
authors.forename: Bo Sang
authors.initials: BS
authors.lastname: Kwon
authors.forename: Eun Jung
authors.initials: EJ
authors.lastname: Bae
authors.forename: Chung Il
authors.initials: CI
authors.lastname: Noh
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
mesh_terms: D000138:Acidosis / Q000209:etiology; D000208:Acute Disease; D000217:Acyltransferases; D000293:Adolescent; D056889:Barth Syndrome / Q000175:diagnosis / Q000235:genetics*; D003287:Contrast Media / Q000009:adverse effects; D016368:Frameshift Mutation; D006333:Heart Failure / Q000209:etiology; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D003287:Contrast Media; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human
keywords: Barth Syndrome; Cardiolipin; Cardiomyopathy; Neutropenia; Tafazzin Gene