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.
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.
Authors: Javier T Granados-Riveron; Mark Pope; Frances A Bu'lock; Christopher Thornborough; Jacqueline Eason; Kerry Setchfield; Ami Ketley; Edwin P Kirk; Diane Fatkin; Michael P Feneley; Richard P Harvey; J David Brook Journal: Congenit Heart Dis Date: 2011-10-20 Impact factor: 2.007