title: GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease.
abstract: BACKGROUND
  Congenital heart disease (CHD) is the most common developmental anomaly in newborns. The germline mutations in GATA4 and NKX2.5 genes have been identified as responsible for CHD. The frequency of GATA4 and NKX2.5 mutations in Chinese Uygur patients with CHD and the correlation between their genotype and CHD phenotype are unknown.
  
  
  METHODS
  We examined the coding region of GATA4 and NKX2.5 genes in 62 Chinese Uygur patients with CHD and 117 Chinese Uygur individuals as the controls by denaturing high performance liquid chromatography (DHPLC) and sequencing.
  
  
  RESULTS
  Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. The two patients did not have atrioventricular conduct defects or non-cardiac abnormalities. The two mutations are expected to affect the protein function. There were no reported NKX2.5 mutations in the patients.
  
  
  CONCLUSIONS
  Our results provided the primary data on CHD phenotype associated with GATA4 mutation in the Chinese Uygur population.
authors.affiliation: Cardiac Center, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing100045, China.
authors.forename: Wei-min
authors.initials: WM
authors.lastname: Zhang
authors.forename: Xiao-feng
authors.initials: XF
authors.lastname: Li
authors.forename: Zhong-yuan
authors.initials: ZY
authors.lastname: Ma
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Si-hai
authors.initials: SH
authors.lastname: Zhou
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Lin
authors.initials: L
authors.lastname: Shi
authors.forename: Zhong-zhi
authors.initials: ZZ
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D050991:GATA4 Transcription Factor / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D016133:Polymerase Chain Reaction; D013771:Tetralogy of Fallot / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: 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