Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

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

Nature Genetics（2016）

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摘要

Matthew Hurles and colleagues report exome sequencing of 1,891 individuals with syndromic or nonsyndromic congenital heart defects (CHD). They found that nonsyndromic CHD patients were enriched for protein-truncating variants in CHD-associated genes inherited from unaffected parents and identified three new syndromic CHD disorders caused by de novo mutations.

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Clinical genetics,Congenital heart defects,Genetics research,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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