Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1.

Abstract

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 (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantigens / genetics*
  • CDC2 Protein Kinase / chemistry
  • CDC2 Protein Kinase / genetics*
  • Exome / genetics
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Mi-2 Nucleosome Remodeling and Deacetylase Complex / genetics*
  • Mutation / genetics*
  • Protein Conformation
  • Protein Kinase C / genetics*
  • Sequence Deletion
  • Syndrome

Substances

  • Autoantigens
  • CHD4 protein, human
  • protein kinase D
  • Protein Kinase C
  • CDC2 Protein Kinase
  • CDK13 protein, human
  • Mi-2 Nucleosome Remodeling and Deacetylase Complex