Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Apr;23(2):134-7.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Asian People / 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

Substances

  • GATA4 Transcription Factor
  • GATA4 protein, human