The Journal of Thoracic and Cardiovascular Surgery
Volume 140, Issue 3 , Pages 684-687 , September 2010

A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect

  • Yu Chen, MD

      Affiliations

    • Department of Cardiovascular Surgery, Peking University People's Hospital, Beijing, China
    • Corresponding Author InformationAddress for reprints: Yu Chen, MD, Department of Cardiovascular Surgery, Peking University People's Hospital, No. 11, Xizhimen South St, Beijing 100044, China.
  • ,
  • Zeng-Qiang Han, MD

      Affiliations

    • Department of Cardiovascular Surgery, Peking University People's Hospital, Beijing, China
  • ,
  • Wei-Dong Yan, MD

      Affiliations

    • Department of Cardiology, Xiang City First People's Hospital, Henan, China
  • ,
  • Chu-Zhong Tang, MD

      Affiliations

    • Department of Cardiovascular Surgery, Peking University People's Hospital, Beijing, China
  • ,
  • Ji-Yan Xie, MD

      Affiliations

    • Department of Cardiovascular Surgery, Peking University People's Hospital, Beijing, China
  • ,
  • Hong Chen, MD

      Affiliations

    • Department of Cardiology, Peking University People's Hospital, Beijing, China
  • ,
  • Da-Yi Hu, MD

      Affiliations

    • Department of Cardiology, Peking University People's Hospital, Beijing, China

Received 2 November 2009 ,Revised 5 December 2009 ,Accepted 2 January 2010.

References 

  1. Olson EN, Srivastava D. Molecular pathways controlling heart development. Science. 1996;272:671–676
  2. Fishman MC, Olson EN. Parsing the heart: genetic modules for organ assembly. Cell. 1997;91:153–156
  3. Olson EN. A genetic blueprint for growth and development of the heart. Harvey Lect. 2002-2003;98:41–64
  4. Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature. 2003;424:443–447
  5. Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, et al. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet. 2004;41:e97
  6. Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 1998;281:108–111
  7. Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999;104:1567–1573
  8. Ikeda Y, Hiroi Y, Hosoda T, Utsunomiya T, Matsuo S, Ito T, et al. Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease. Circ J. 2002;66:561–563
  9. Molkentin JD, Lin Q, Duncan SA, Olson EN. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev. 1997;11:1061–1072
  10. Kuo CT, Morrisey EE, Anandappa R, Sigrist K, Lu MM, Parmacek MS, et al. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev. 1997;11:1048–1060
  11. Gajewski K, Fossett N, Molkentin JD, Schulz RA. The zinc finger proteins Pannier and GATA4 function as cardiogenic factors in. Drosophila. Development. 1999;126:5679–5688
  12. Reiter JF, Alexander J, Rodaway A, Yelon D, Patient R, Holder N, et al. Gata5 is required for the development of the heart and endoderm in zebrafish. Genes Dev. 1999;13:2983–2995
  13. Kobayashi M, Nishikawa K, Yamamoto M. Hematopoietic regulatory domain of gata1 gene is positively regulated by GATA1 protein in zebrafish embryos. Development. 2001;128:2341–2350
  14. Morrisey EE, Ip HS, Tang Z, Parmacek MS. GATA-4 activates transcription via two novel domains that are conserved within the GATA-4/5/6 subfamily. J Biol Chem. 1997;272:8515–8524
  15. Philips AS, Kwok JC, Chong BH. Analysis of the signals and mechanisms mediating nuclear trafficking of GATA-4. J Biol Chem. 2007;282:24915–24927
  16. Goldmuntz E, Geiger E, Benson DW. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation. 2001;104:2565–2568
  17. Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, et al. Phenotypes With GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet. 2005;135:47–52
  18. Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, McDonough B, et al. Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation. 1998;97:2043–2048
  19. Pearson AC, Labovitz AJ, Tatineni S, Gomez CR. Superiority of transesophageal echocardiography in detecting cardiac source of embolization in patients with cerebral ischemia of uncertain etiology. J Am Coll Cardiol. 1991;17:66–72
  20. Rizzoli G, Bottio T, Pittarello D, Napodano M, Thiene G, Basso C. Atrial septal mass: transesophageal echocardiographic assessment. J Thorac Cardiovasc Surg. 2004;128:767–769
  21. Brand A, Keren A, Branski D, Abrahamov A, Stern S. Natural course of atrial septal aneurysm in children and the potential for spontaneous closure of associated septal defect. Am J Cardiol. 1989;64:996–1001
  22. Cockerham JT, Martin TC, Gutierrez FR, Hartmann AF, Goldring D, Strauss AW. Spontaneous closure of secundum atrial septal defect in infants and young children. Am J Cardiol. 1983;52:1267–1271
  23. Dzau VJ, Mann MJ, Ehsan A, Griese DP. Gene therapy and genomic strategies for cardiovascular surgery: the emerging field of surgiomics. J Thorac Cardiovasc Surg. 2001;121:206–216

 This research was supported by Peking University People's Hospital Research and Development Funds.

 Disclosures: None.

PII: S0022-5223(10)00044-9

doi: 10.1016/j.jtcvs.2010.01.013

The Journal of Thoracic and Cardiovascular Surgery
Volume 140, Issue 3 , Pages 684-687 , September 2010