Journal of Cardiovascular Imaging

Korean Society of Echocardiography (한국심초음파학회)
권호 표지
DOI QR코드

DOI QR Code

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)
  • Received : 2015.08.23
  • Accepted : 2016.05.10
  • Published : 2016.06.27
⟨ Previous Next ⟩

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.

Keywords

References

  1. Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsel JM, Luyt-Houwen IE, Van't Veer-Korthof ET, Van der Harten JJ, Sobotka-Plojhar MA. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983;62:327-55. https://doi.org/10.1016/0022-510X(83)90209-5
  2. Aprikyan AA, Khuchua Z. Advances in the understanding of Barth syndrome. Br J Haematol 2013;161:330-8. https://doi.org/10.1111/bjh.12271
  3. barthsyndrome.org [Internet]. Human TAZ gene variants database [updated 2015 Mar 28; cited 2015 Jul 10]. Available from: http://www.barthsyndrome.org./science--medicine/human-taz-gene-variants-database.
  4. Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT, Swisher WP. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 1991;119:738-47. https://doi.org/10.1016/S0022-3476(05)80289-6
  5. Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 1991; 48:481-5.
  6. Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet J Rare Dis 2013;8:23. https://doi.org/10.1186/1750-1172-8-23
  7. Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A 2004;126A:349-54. https://doi.org/10.1002/ajmg.a.20660
  8. Neuwald AF. Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 1997;7:R465-6.
  9. Vreken P, Valianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders RJ, Barth PG. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem Biophys Res Commun 2000;279:378-82. https://doi.org/10.1006/bbrc.2000.3952
  10. Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet 2013; 163C:198-205.
  11. Sakamoto O, Kitoh T, Ohura T, Ohya N, Iinuma K. Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome. J Hum Genet 2002;47:229-31. https://doi.org/10.1007/s100380200030
  12. Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr 1999;135:311-5. https://doi.org/10.1016/S0022-3476(99)70126-5
  13. Kim GB, Kwon BS, Bae EJ, Noh CI, Seong MW, Park SS. A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection. J Korean Med Sci 2013;28:784-7. https://doi.org/10.3346/jkms.2013.28.5.784
  14. Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006;118:e337-46. https://doi.org/10.1542/peds.2005-2667
  15. Rigaud C, Lebre AS, Touraine R, Beaupain B, Ottolenghi C, Chabli A, Ansquer H, Ozsahin H, Di Filippo S, De Lonlay P, Borm B, Rivier F, Vaillant MC, Mathieu-Dramard M, Goldenberg A, Viot G, Charron P, Rio M, Bonnet D, Donadieu J. Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis 2013;8:70. https://doi.org/10.1186/1750-1172-8-70
  16. Huhta JC, Pomerance HH, Barness EG. Clinicopathologic conference: Barth syndrome. Fetal Pediatr Pathol 2005;24:239-54. https://doi.org/10.1080/15227950500405429
  17. Mazurova S, Tesarova M, Magner M, Houstkova H, Hansikova H, Augustinova J, Tomek V, Vondrackova A, Zeman J, Honzik T. Novel mutations in the TAZ gene in patients with Barth syndrome. Prague Med Rep 2013;114:139-53. https://doi.org/10.14712/23362936.2014.16

Cited by

  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