A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
Journal of Korean Medical Science
; : 784-787, 2013.
Article
在 En
| WPRIM
| ID: wpr-80566
Responsible library:
WPRO
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.
Key words
全文:
1
索引:
WPRIM
主要主题:
Pedigree
/
Transcription Factors
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Acidosis
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Tomography, X-Ray Computed
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Acute Disease
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Frameshift Mutation
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Sequence Analysis, DNA
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Contrast Media
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Barth Syndrome
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Heart Failure
限制:
Adolescent
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Humans
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Male
语言:
En
期刊:
Journal of Korean Medical Science
年:
2013
类型:
Article