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Article

Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects

  • Authors:
    • Xike Wang
    • Wei Ji
    • Jian Wang
    • Pengjun Zhao
    • Ying Guo
    • Rang Xu
    • Sun Chen
    • Kun Sun
  • View Affiliations / Copyright

    Affiliations: Children's Heart Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, P.R. China, Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, P.R. China
  • Pages: 743-748
    |
    Published online on: May 16, 2014
       https://doi.org/10.3892/mmr.2014.2247
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Abstract

GATA binding protein 6 (GATA6) encodes a zinc‑finger transcription factor that is essential for normal heart development. Mutations in this gene lead to conotruncal heart defects associated with cyanotic congenital heart disease; however, it remains unclear whether the mutations in GATA6 are also responsible for the development of the nonsyndromic conotruncal heart defects. The coding region exons and flanking intron sequences of GATA6 were screened in 157 patients with nonsyndromic conotruncal heart defects and 300 control subjects. Three heterozygous missense mutations, c.151G>A (E51K), c.551G>A (S184N) and c.733G>C (G245R), were identified in patients with tetralogy of Fallot or persistent truncus arteriosus. The two novel mutations (E51K and G245R) identified in the current study are located in evolutionarily conserved residues of the GATA6 protein. It was demonstrated that these two mutations lead to a significant reduction in the transactivation capacity of downstream genes. The current study presents two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects and provides novel insights into the pathogenesis of this disease.
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Copy and paste a formatted citation
Spandidos Publications style
Wang X, Ji W, Wang J, Zhao P, Guo Y, Xu R, Chen S and Sun K: Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Mol Med Rep 10: 743-748, 2014.
APA
Wang, X., Ji, W., Wang, J., Zhao, P., Guo, Y., Xu, R. ... Sun, K. (2014). Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Molecular Medicine Reports, 10, 743-748. https://doi.org/10.3892/mmr.2014.2247
MLA
Wang, X., Ji, W., Wang, J., Zhao, P., Guo, Y., Xu, R., Chen, S., Sun, K."Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects". Molecular Medicine Reports 10.2 (2014): 743-748.
Chicago
Wang, X., Ji, W., Wang, J., Zhao, P., Guo, Y., Xu, R., Chen, S., Sun, K."Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects". Molecular Medicine Reports 10, no. 2 (2014): 743-748. https://doi.org/10.3892/mmr.2014.2247
Copy and paste a formatted citation
x
Spandidos Publications style
Wang X, Ji W, Wang J, Zhao P, Guo Y, Xu R, Chen S and Sun K: Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Mol Med Rep 10: 743-748, 2014.
APA
Wang, X., Ji, W., Wang, J., Zhao, P., Guo, Y., Xu, R. ... Sun, K. (2014). Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Molecular Medicine Reports, 10, 743-748. https://doi.org/10.3892/mmr.2014.2247
MLA
Wang, X., Ji, W., Wang, J., Zhao, P., Guo, Y., Xu, R., Chen, S., Sun, K."Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects". Molecular Medicine Reports 10.2 (2014): 743-748.
Chicago
Wang, X., Ji, W., Wang, J., Zhao, P., Guo, Y., Xu, R., Chen, S., Sun, K."Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects". Molecular Medicine Reports 10, no. 2 (2014): 743-748. https://doi.org/10.3892/mmr.2014.2247
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