GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient.

ABSTRACT:

Background

GATA transcription factors are evolutionary conserved zinc finger proteins with multiple roles in cell differentiation/proliferation and organogenesis. GATA5 is only transiently expressed in the embryonic heart, and the inactivation of both Gata5 alleles results in a partially penetrant bicuspid aortic valve (BAV) phenotype in mice. We hypothesized that only biallelic mutations in GATA5 could be disease causing.

Methods

A total of 185 patients with different forms of congenital heart disease (CHD) were screened along 150 healthy individuals for GATA4, 5, and 6. All patients' phenotypes were diagnosed with echocardiography.

Results

Sequencing results revealed eight missense variants (three of which are novel) in cases with various conotruncal and septal defe

SUBMITTER: Kassab K 

PROVIDER: S-EPMC4799877 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature