Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9.

Abstract

Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ∼5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ∼11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of Tetralogy of Fallot. De novo mutations (DNMs) accounted for 8% of cases, including ∼3% of isolated CHD patients and ∼28% with both neurodevelopmental and extra-cardiac congenital anomalies. Seven genes surpassed thresholds for genome-wide significance, and 12 genes not previously implicated in CHD had >70% probability of being disease related. DNMs in ∼440 genes were inferred to contribute to CHD. Striking overlap between genes with damaging DNMs in probands with CHD and autism was also found.

MeSH terms

  • Adult
  • Autistic Disorder / genetics*
  • Autistic Disorder / pathology
  • Cardiac Myosins / genetics*
  • Case-Control Studies
  • Child
  • Exome
  • Female
  • Gene Expression
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Growth Differentiation Factor 1 / genetics*
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Homozygote
  • Humans
  • Male
  • Mutation
  • Myosin Heavy Chains / genetics*
  • Pedigree
  • Risk
  • Vascular Endothelial Growth Factor Receptor-3 / genetics*

Substances

  • GDF1 protein, human
  • Growth Differentiation Factor 1
  • MYH6 protein, human
  • FLT4 protein, human
  • Vascular Endothelial Growth Factor Receptor-3
  • Cardiac Myosins
  • Myosin Heavy Chains