Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects.
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.
Tang
Zhao-hui
ZH
Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 P.R.China.
Xia
Li
L
Chang
Wei
W
Li
Hua
H
Shen
Fang
F
Liu
Jing-yu
JY
Wang
Qing
Q
Liu
Mu-gen
MG
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
D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human