Article
De novo mutations in histone-modifying genes in congenital heart disease.
Nature - 13 Jun 2013
Zaidi Samir, Choi Murim, Wakimoto Hiroko, Ma Lijiang, Jiang Jianming, Overton John D, Romano-Adesman Angela, Bjornson Robert D, Breitbart Roger E, Brown Kerry K, Carriero Nicholas J, Cheung Yee Him, Deanfield John, DePalma Steve, Fakhro Khalid A, Glessner Joseph, Hakonarson Hakon, Italia Michael J, Kaltman Jonathan R, Kaski Juan, Kim Richard, Kline Jennie K, Lee Teresa, Leipzig Jeremy, Lopez Alexander, Mane Shrikant M, Mitchell Laura E, Newburger Jane W, Parfenov Michael, Pe'er Itsik, Porter George, Roberts Amy E, Sachidanandam Ravi, Sanders Stephan J, Seiden Howard S, State Mathew W, Subramanian Sailakshmi, Tikhonova Irina R, Wang Wei, Warburton Dorothy, White Peter S, Williams Ismee A, Zhao Hongyu, Seidman Jonathan G, Brueckner Martina, Chung Wendy K, Gelb Bruce D, Goldmuntz Elizabeth, Seidman Christine E, Lifton Richard P
Abstract excerpt
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...
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