, Volume 138, Issue 11, pp 1231–1240

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


DOI: 10.1007/s10709-010-9522-4

Cite this article as:
Peng, T., Wang, L., Zhou, SF. et al. Genetica (2010) 138: 1231. doi:10.1007/s10709-010-9522-4


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.


GATA4 NKX2.5 Congenital heart disease Mutation Pediatric patient 

Supplementary material

10709_2010_9522_MOESM1_ESM.doc (46 kb)
Supplementary material 1 (DOC 45 kb)

Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  1. 1.The Obstetrics and Gynecology HospitalFudan UniversityShanghaiChina
  2. 2.Department of Pharmaceutical Sciences, School of PharmacyUniversity of South FloridaTampaUSA

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