Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects.
- Author:
Zhao-hui TANG
1
;
Li XIA
;
Wei CHANG
;
Hua LI
;
Fang SHEN
;
Jing-yu LIU
;
Qing WANG
;
Mu-gen LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Amino Acid Substitution; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; Exons; genetics; GATA4 Transcription Factor; genetics; Heart Defects, Congenital; genetics; Humans; Infant; Molecular Sequence Data; Mutation; Mutation, Missense; Point Mutation; Young Adult
- From: Chinese Journal of Medical Genetics 2006;23(2):134-137
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD).
METHODSSingle 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.
RESULTSTwo novel missense mutations, V267M in exon 4, V380M in exon 6, and one polymorphism in intron 6 of GATA4 were identified.
CONCLUSIONThe 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.
