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.

Conclusion: 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.