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Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

24 Mar 2025

Abstract excerpt

Congenital heart disease (CHD) is a leading cause of infant mortality. We analyzed de novo mutations (DNMs) and very rare transmitted/unphased damaging variants in 248 prespecified genes in 11,555 CHD probands. The results identified 60 genes with a significant burden of heterozygous damaging variants. Variants in these genes accounted for CHD in 10.1% of probands with similar contributions from de novo and...

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PMID: 40127276
DOI: 10.1073/pnas.2420343122

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