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Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease

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Abstract

A number of mutations in GATA4 and NKX2.5 have been identified to be causative for a subset of familial congenital heart defects (CHDs) and a small number of sporadic CHDs. In this study, we evaluated common GATA4 and NKX2.5 mutations in 135 Chinese pediatric patients with non-familial congenital heart defects. Two novel mutations in the coding region of GATA4 were identified, namely, 487C>T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C>A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect. We also found 848C>A (Pro283Gln) in exon 2 of the NKX2.5 gene in a pediatric patient with ventricular septal defect, patent ductus arteriosus and aortic isthmus stenosis. None of the mutations was detected in healthy control subjects (n = 114). This study suggests that GATA4 and NKX2.5 missense mutations may be associated with congenital heart defects in pediatric Chinese patients. Further clinical studies with large samples are warranted.

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Acknowledgments

The authors appreciate the support by National Leading Basic Research & Development Programs (973) entitled “Basic research on the pathogenesis and intervention of congenital heart diseases. Project 4: Mechanistic studies on the pathogenesis of conotruncal defects” (No. 2010CB529504).

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  1. The Obstetrics and Gynecology Hospital, Fudan University, 419 Fangxie Road, 200011, Shanghai, China

    Ting Peng, Li Wang & Xiaotian Li

  2. Department of Pharmaceutical Sciences, School of Pharmacy, University of South Florida, 12901 Bruce B. Downs Blvd., Tampa, FL, 33612, USA

    Shu-Feng Zhou

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  1. Ting Peng
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Peng, T., Wang, L., Zhou, SF. et al. Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica 138, 1231–1240 (2010). https://doi.org/10.1007/s10709-010-9522-4

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