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The Genotype and Expression of the TGFβ2 Gene in Children With Congenital Conotruncal Defects

Pediatric Cardiology volume 34, pages 1823–1828 (2013)Cite this article

Abstract

Animal studies have shown that knockout of the transforming growth factor beta-2 (TGFβ2) gene results in diverse cardiovascular malformations and that its unregulated expression is involved in the pathogenesis of heart defects. However, little information is available on the genetic and expression alternations of the TGFβ2 gene in children with congenital heart disease. This study investigated the genotype and expression of the TGFβ2 gene in children with congenital conotruncal defects (CTDs). The whole coding region of the TGFβ2 gene was sequenced in 400 children with CTD. The mRNA and protein expression of the TGFβ2 gene was further analyzed in the myocardial tissues of 37 children with CTD and 5 age-matched healthy children using real-time polymerase chain reaction and immunohistochemistry. No pathogenic mutations in the coding region of the TGFβ2 gene were shown by DNA sequencing except for a silent mutation (c.597T > C) in exon 4 of one patient. The TGFβ2 expression at either the mRNA or the protein level in the myocardial tissues did not differ significantly between the children with CTD and the children without heart defects. The results indicate that germline mutation of the TGFβ2 gene is not a common cause of CTD in humans and that the TGFβ2 expression level may be less critical in humans than in animals for the pathogenesis of CTD.

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Acknowledgments

This study was supported by the Natural Science Foundation of China (30930096) and the Basic Research Projects (2010CB529505). We thank Prof. Tengfang Zhu (Department of Pathology, Fudan University) for technical assistance.

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Affiliations

  1. Cardiac Center, Children’s Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China

    Yingying Meng, Xiaojing Ma, Jing Zhang, Huijun Wang & Guoying Huang

  2. Key Laboratory of Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Institute of Medical Sciences, Shanghai Medical College, Fudan University, Shanghai, China

    Duan Ma

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  1. Yingying Meng
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  2. Xiaojing Ma
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  3. Jing Zhang
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  4. Huijun Wang
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  5. Duan Ma
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  6. Guoying Huang
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Correspondence to Guoying Huang.

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Meng, Y., Ma, X., Zhang, J. et al. The Genotype and Expression of the TGFβ2 Gene in Children With Congenital Conotruncal Defects. Pediatr Cardiol 34, 1823–1828 (2013). https://doi.org/10.1007/s00246-013-0696-2

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  • DOI: https://doi.org/10.1007/s00246-013-0696-2

Keywords

  • Conotruncal defects
  • Gene expression
  • Gene mutation
  • TGFβ2