title: Copy number variation of GATA4 and NKX2-5 in Chinese fetuses with congenital heart disease.
abstract: BACKGROUND
  Congenital heart disease (CHD) is one of the most common birth defects in newborns. The etiology of CHD has remained largely unknown, but it is assumed to result from the combined effects of genetic and environmental factors. Recent investigations have detected potentially pathogenic copy number variations (CNV) in a proportion of patients with CHD. The present case-control study evaluated whether CNV in the GATA4 and NKX2-5 genes contribute to the pathogenesis of CHD in Chinese fetuses (n = 117), by comparing them with non-CHD control subjects (n = 100).
  
  
  METHODS
  Multiplex ligation-dependent probe amplification with the P311A probe mixture was used to detect CNV.
  
  
  RESULTS
  The normalized signals were within the normal range for all exons in all CHD patients and non-CHD control subjects. Of the 117 CHD patients, three had a deletion of 22q11, and two had a duplication of 22q11.
  
  
  CONCLUSIONS
  There was no evidence of a role for NKX2-5 and GATA4 CNV in fetal CHD; therefore, these CNV may not be common in fetal CHD in China.
authors.affiliation: National Center for Birth Defect Monitoring, West China Second Hospital, Chengdu, China; Laboratory of Molecular Epidemiology for Birth Defects, West China Second Hospital, Chengdu, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Liu
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Shanling
authors.initials: S
authors.lastname: Liu
authors.forename: Ying
authors.initials: Y
authors.lastname: Deng
authors.forename: Hongqian
authors.initials: H
authors.lastname: Liu
authors.forename: Nana
authors.initials: N
authors.lastname: Li
authors.forename: Shengli
authors.initials: S
authors.lastname: Li
authors.forename: Xinlin
authors.initials: X
authors.lastname: Chen
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
authors.forename: He
authors.initials: H
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Zhu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D056915:DNA Copy Number Variations; D005260:Female; D005333:Fetus; D050991:GATA4 Transcription Factor / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D060885:Multiplex Polymerase Chain Reaction
chemical_list: D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human; D000072576:Homeobox Protein Nkx-2.5; C095552:NKX2-5 protein, human
keywords: DNA copy number variation; GATA4 transcription factor; NKX2-5; congenital heart disease; fetal malformation