Ontology highlight
ABSTRACT:
SUBMITTER: Zaidi S
PROVIDER: S-EPMC3706629 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Zaidi Samir S Choi Murim M Wakimoto Hiroko H Ma Lijiang L Jiang Jianming J Overton John D JD Romano-Adesman Angela A Bjornson Robert D RD Breitbart Roger E RE Brown Kerry K KK Carriero Nicholas J NJ Cheung Yee Him YH Deanfield John J DePalma Steve S Fakhro Khalid A KA Glessner Joseph J Hakonarson Hakon H Italia Michael J MJ Kaltman Jonathan R JR Kaski Juan J Kim Richard R Kline Jennie K JK Lee Teresa T Leipzig Jeremy J Lopez Alexander A Mane Shrikant M SM Mitchell Laura E LE Newburger Jane W JW Parfenov Michael M Pe'er Itsik I Porter George G Roberts Amy E AE Sachidanandam Ravi R Sanders Stephan J SJ Seiden Howard S HS State Mathew W MW Subramanian Sailakshmi S Tikhonova Irina R IR Wang Wei W Warburton Dorothy D White Peter S PS Williams Ismee A IA Zhao Hongyu H Seidman Jonathan G JG Brueckner Martina M Chung Wendy K WK Gelb Bruce D BD Goldmuntz Elizabeth E Seidman Christine E CE Lifton Richard P RP
Nature 20130512 7453
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. Here we compare the incidence of de novo mutations in 362 severe CHD cases and 264 controls by analysing exome sequencing of parent-offspring trios. CHD cases show a significant excess of protein-altering de novo mutations in genes expressed in the developing heart, with an odds ratio of 7.5 for da ...[more]