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Article

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Proceedings of the National Academy of Sciences of the United States of America - 11 Mar 2025

Dong Weilai, Jin Sheng Chih, Sierant Michael C, Lu Ziyu, Li Boyang, Lu Qiongshi, Morton Sarah U, Zhang Junhui, López-Giráldez Francesc, Nelson-Williams Carol, Knight James R, Zhao Hongyu, Cao Junyue, Mane Shrikant, Gruber Peter J, Lek Monkol, Goldmuntz Elizabeth, Deanfield John, Giardini Alessandro, Mital Seema, Russell Mark, Gaynor J William, Cnota James F, Wagner Michael, Srivastava Deepak, Bernstein Daniel, Porter George A, Newburger Jane, Roberts Amy E, Yandell Mark, Yost H Joseph, Tristani-Firouzi Martin, Kim Richard, Seidman Jonathan, Chung Wendy K, Gelb Bruce D, Seidman Christine E, Lifton Richard P, Brueckner Martina

Abstract excerpt

Variants with large effect contribute to congenital heart disease (CHD). To date, recessive genotypes (RGs) have commonly been implicated through anecdotal ascertainment of consanguineous families and candidate gene-based analysis; the recessive contribution to the broad range of CHD phenotypes has been limited. We analyzed whole exome sequences of 5,424 CHD probands. Rare damaging RGs were estimated to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40030011
DOI: 10.1073/pnas.2419992122
PMCID: PMC11912448

Genes

GDF1
MYBPC3
MYH6
MYO18B
PLD1
UNC45B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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