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

• Tác giả: Daniel Bernstein, Martina Brueckner, Junyue Cao, Wendy K Chung, James F Cnota, John Deanfield, Weilai Dong, J William Gaynor, Bruce D Gelb, Alessandro Giardini, Elizabeth Goldmuntz, Peter J Gruber, Sheng Chih Jin, Richard Kim, James R Knight, Monkol Lek, Boyang Li, Richard P Lifton, Francesc López-Giráldez, Qiongshi Lu, Ziyu Lu, Shrikant Mane, Seema Mital, Sarah U Morton, Carol Nelson-Williams, Jane Newburger, George A Porter, Amy E Roberts, Mark Russell, Christine E Seidman, Jonathan Seidman, Michael C Sierant, Deepak Srivastava, Martin Tristani-Firouzi, Michael Wagner, Mark Yandell, H Joseph Yost, Junhui Zhang, Hongyu Zhao
• Ngôn ngữ: eng
• Thông tin xuất bản: United States : Proceedings of the National Academy of Sciences of the United States of America , 2025
• Bộ sưu tập: NCBI
• ID: 692559

Tóm tắt

 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 contribute to at least 2.2% of CHD, with greater enrichment among laterality phenotypes (5.4%) versus other subsets (1.4%). Among 108 curated human recessive CHD genes, there were 66 RGs, with 54 in 11 genes with >
 1 RG, 12 genes with 1 RG, and 85 genes with zero. RGs were more prevalent among offspring of consanguineous union (4.7%, 32/675) than among nonconsanguineous probands (0.7%, 34/4749). Founder variants in