A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection.
10.3346/jkms.2013.28.5.784
- Author:
Gi Beom KIM
1
;
Bo Sang KWON
;
Eun Jung BAE
;
Chung Il NOH
;
Moon Woo SEONG
;
Sung Sup PARK
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cielcel0@snu.ac.kr
- Publication Type:Case Reports
- Keywords:
Barth Syndrome;
Tafazzin Gene;
Cardiomyopathy;
Cardiolipin;
Neutropenia
- MeSH:
Acidosis/etiology;
Acute Disease;
Adolescent;
Barth Syndrome/diagnosis/*genetics;
Contrast Media/adverse effects/*diagnostic use;
Frameshift Mutation;
Heart Failure/etiology;
Homozygote;
Humans;
Male;
Mutation;
Pedigree;
Sequence Analysis, DNA;
Tomography, X-Ray Computed;
Transcription Factors/*genetics
- From:Journal of Korean Medical Science
2013;28(5):784-787
- CountryRepublic of Korea
- Language:English
-
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.
