title: Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects.
abstract: OBJECTIVE
  To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD).
  
  
  METHODS
  Single stranded conformation polymorphism (SSCP) analysis was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4 in 31 individuals with CHD. Direct DNA sequencing was used to identify the specific mutations.
  
  
  RESULTS
  Two novel missense mutations, V267M in exon 4, V380M in exon 6, and one polymorphism in intron 6 of GATA4 were identified.
  
  
  CONCLUSIONS
  The above identified two novel GATA4 mutations associated with CHD in Chinese patients. This suggests that the transcription factor GATA4 may play an important role in cardiogenesis.
authors.affiliation: Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 P.R.China.
authors.forename: Zhao-hui
authors.initials: ZH
authors.lastname: Tang
authors.forename: Li
authors.initials: L
authors.lastname: Xia
authors.forename: Wei
authors.initials: W
authors.lastname: Chang
authors.forename: Hua
authors.initials: H
authors.lastname: Li
authors.forename: Fang
authors.initials: F
authors.lastname: Shen
authors.forename: Jing-yu
authors.initials: JY
authors.lastname: Liu
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Mu-gen
authors.initials: MG
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D050991:GATA4 Transcription Factor / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation; D055815:Young Adult
chemical_list: D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human