Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

ABSTRACT:

Background

Congenital diaphragmatic hernia (CDH) is a common birth defect affecting 1 in 3000 births. It is characterised by herniation of abdominal viscera through an incompletely formed diaphragm. Although chromosomal anomalies and mutations in several genes have been implicated, the cause for most patients is unknown.

Methods

We used whole exome sequencing in two families with CDH and congenital heart disease, and identified mutations in GATA6 in both.

Results

In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. The G238* mutation was inherited from th

SUBMITTER: Yu L 

PROVIDER: S-EPMC3955383 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature