Article
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nature genetics - 1 Sept 2016
Sifrim Alejandro, Hitz Marc-Phillip, Wilsdon Anna, Breckpot Jeroen, Turki Saeed H Al, Thienpont Bernard, McRae Jeremy, Fitzgerald Tomas W, Singh Tarjinder, Swaminathan Ganesh Jawahar, Prigmore Elena, Rajan Diana, Abdul-Khaliq Hashim, Banka Siddharth, Bauer Ulrike M M, Bentham Jamie, Berger Felix, Bhattacharya Shoumo, Bu'Lock Frances, Canham Natalie, Colgiu Irina-Gabriela, Cosgrove Catherine, Cox Helen, Daehnert Ingo, Daly Allan, Danesh John, Fryer Alan, Gewillig Marc, Hobson Emma, Hoff Kirstin, Homfray Tessa, Kahlert Anne-Karin, Ketley Ami, Kramer Hans-Heiner, Lachlan Katherine, Lampe Anne Katrin, Louw Jacoba J, Manickara Ashok Kumar, Manase Dorin, McCarthy Karen P, Metcalfe Kay, Moore Carmel, Newbury-Ecob Ruth, Omer Seham Osman, Ouwehand Willem H, Park Soo-Mi, Parker Michael J, Pickardt Thomas, Pollard Martin O, Robert Leema, Roberts David J, Sambrook Jennifer, Setchfield Kerry, Stiller Brigitte, Thornborough Chris, Toka Okan, Watkins Hugh, Williams Denise, Wright Michael, Mital Seema, Daubeney Piers E F, Keavney Bernard, Goodship Judith, Abu-Sulaiman Riyadh Mahdi, Klaassen Sabine, Wright Caroline F, Firth Helen V, Barrett Jeffrey C, Devriendt Koenraad, FitzPatrick David R, Brook J David, Hurles Matthew E
Abstract excerpt
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...
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