Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
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.
The Obstetrics and Gynecology Hospital, Fudan University, 419 Fangxie Road, 200011 Shanghai, China.
Ting
T
Peng
Li
L
Wang
Shu-Feng
SF
Zhou
Xiaotian
X
Li
D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002681:China; D005091:Exons; D005260:Female; D050991:GATA4 Transcription Factor / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011446:Prospective Studies; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors