GATA4 sequence variants in patients with congenital heart disease.

ABSTRACT:

Background

Recent reports have identified mutations in the transcription factor GATA4 in familial cases of cardiac septal defects. The prevalence of GATA4 mutations in the population of patients with septal defects is unknown. Given that patients with septal and conotruncal defect can share a common genetic basis, it is unclear whether patients with additional types of CHD might also have GATA4 mutations.

Aims

To explore these questions by investigating a large population of 628 patients with either septal or conotruncal defects for GATA4 sequence variants.

Methods

The GATA4 coding region and exon-intron boundaries were investigated for sequence variants using denaturing high-performance liquid chromatography or conformation-sensitive gel electrophoresis. Samples show

SUBMITTER: Tomita-Mitchell A 

PROVIDER: S-EPMC2652815 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature