Ontology highlight
ABSTRACT:
SUBMITTER: Sifrim A
PROVIDER: S-EPMC5988037 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Nature genetics 20160801 9
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD ...[more]