Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation.

ABSTRACT:

Background

Congenital heart disease (CHD) is a common birth defect, and most cases occur sporadically. Mutations in key genes that are responsible for cardiac development could contribute to CHD. To date, the genetic causes of CHD remain largely unknown.

Methods

In this study, twenty-nine candidate genes in CHD were sequenced in 106 patients with Tetralogy of Fallot (TOF) using target exome sequencing (TES). The co-immunoprecipitation (CO-IP) and luciferase reporter gene assays were performed in HEK293T cells, and wild-type and mutant mRNA of ZFPM2 were microinjected into zebrafish embryos.

Results

Rare variants in key cardiac transcriptional factors and JAG1 were identified in the patients. Four patients carried multiple gene variants. The novel E1148K variant was lo

SUBMITTER: Qian Y 

PROVIDER: S-EPMC5379520 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature