J Cardiovasc Ultrasound.  2016 Jun;24(2):153-157. 10.4250/jcu.2016.24.2.153.

Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome

• Yoo TY
• Kim MR
• Son JS
• Lee R
• Bae SH
• Chung S
• Kim KS
• Seong MW
• Park SS

• KMID: 2308705
• DOI: http://doi.org/10.4250/jcu.2016.24.2.153

Abstract

Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the TAZ gene. To the best of our knowledge, this is the first reported case of a BTHS patient with a de novo mutation in Korea. This report will contribute towards expanding the knowledge on the mutation spectrum of the TAZ gene in BTHS.

Keyword

Barth syndrome; Cardiomyopathy; Growth delay; Neutropenia; Tafazzin

MeSH Terms

Barth Syndrome*
Cardiolipins
Cardiomyopathies
Failure to Thrive
Humans
Infant
Korea
Male
Muscular Diseases
Neutropenia
Cardiolipins

Figure

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  Fig. 1 Chest X-ray shows marked cardiomegaly with pulmonary edema at admission (A) and decreased cardiomegaly at the last follow-up (B).

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  Fig. 2 Electrocardiogram shows sinus rhythm with left ventricular hypertrophy.

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  Fig. 3 Echocardiographic images in apical four chamber (A) and parasternal short axis view (B) show a marked dilated and globular left ventricle, prominent endomyocardial trabeculations, and color Doppler flow within the deep intertrabecular recesses (C).

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  Fig. 4 Peak systolic longitudinal strain by speckle tracking in apical four chamber view and M-mode in standard parasternal long axis view. First (A and C) and last (B and D) echocardiographic image of the index patient. During follow up period, the cardiac systolic function remarkably improved over time.

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  Fig. 5 TAZ gene sequencing electropherogram shows that the patient was hemizygous for the in-frame deletion, c.725_751del (arrow). The variant was not detected in his mother, indicating that it was a de novo mutation.

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