Journal of Cardiovascular Imaging

  • 제24권2호
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  • Pages.153-157
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  • 2016
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  • 2586-7210(pISSN)
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  • 2586-7296(eISSN)
한국심초음파학회 (Korean Society of Echocardiography)
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Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome

  • Yoo, Tae Yeon (Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine) ;
  • Kim, Mock Ryeon (Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine) ;
  • Son, Jae Sung (Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine) ;
  • Lee, Ran (Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine) ;
  • Bae, Sun Hwan (Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine) ;
  • Chung, Sochung (Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine) ;
  • Kim, Kyo Sun (Department of Pediatrics, Konkuk University Medical Center, Konkuk University School of Medicine) ;
  • Seong, Moon-Woo (Department of Laboratory Medicine, Seoul National University Hospital) ;
  • Park, Sung Sup (Department of Laboratory Medicine, Seoul National University Hospital)
  • 투고 : 2015.08.23
  • 심사 : 2016.05.10
  • 발행 : 2016.06.27
⟨ 이전 논문 다음 논문 ⟩

초록

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.

키워드

참고문헌

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피인용 문헌

  1. Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes vol.9, pp.2, 2016, https://doi.org/10.3390/jcm9020370
  2. TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome vol.726, pp.None, 2020, https://doi.org/10.1016/j.gene.2019.144148