A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.

Content Provider	Europe PMC
Author	Kim, Gi Beom Kwon, Bo Sang Bae, Eun Jung Noh, Chung Il Seong, Moon-Woo Park, Sung Sup
Copyright Year	2013
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.
ISSN	10118934
Volume Number	28
PubMed Central reference number	PMC3653095
Issue Number	5
PubMed reference number	23678274
Journal	Journal of Korean Medical Science [J. Korean Med. Sci]
e-ISSN	15986357
DOI	10.3346/jkms.2013.28.5.784
Language	English
Publisher	The Korean Academy of Medical Sciences
Publisher Date	2013-05-02
Access Restriction	Open
Rights License	This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. © 2013 The Korean Academy of Medical Sciences.
Subject Keyword	Barth Syndrome Tafazzin Gene Cardiomyopathy Cardiolipin Neutropenia
Content Type	Text
Resource Type	Article
Subject	Medicine