A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.

ABSTRACT:

Background

Congenital heart disease (CHD) is the most prevalent type of birth defect in human, with high morbidity in infant. Several genes essential for heart development have been identified. GATA4 is a pivotal transcription factor that can regulate the cardiac development. Many GATA4 mutations have been identified in patients with different types of CHD.

Aims

In this study, the NKX2-5, HAND1 and GATA4 coding regions were sequenced in a family spanning three generations in which seven patients had CHD. Disease-causing potential variation in this family was evaluated by bioinformatics programs and the transcriptional activity of mutant protein was analyzed by the dual luciferase reporter assay.

Results

A novel GATA4 mutation, c.C931T (p.R311W), was identified and co-

SUBMITTER: Zhang X 

PROVIDER: S-EPMC4938561 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature