De novo mutations in histone-modifying genes in congenital heart disease

Samir Zaidi, Murim Choi, Hiroko Wakimoto, Lijiang Ma, Jianming Jiang, John D. Overton, Angela Romano-Adesman, Robert D. Bjornson, Roger E. Breitbart, Kerry K. Brown, Nicholas J. Carriero, Yee Him Cheung, John Deanfield, Steve DePalma, Khalid A. Fakhro, Joseph Glessner, Hakon Hakonarson, Michael J. Italia, Jonathan R. Kaltman, Juan Kaski, Richard Kim, Jennie K. Kline, Teresa Lee, Jeremy Leipzig, Alexander Lopez, Shrikant M. Mane, Laura E. Mitchell, Jane W. Newburger, Michael Parfenov, Itsik Pe’er, George Porter, Amy E. Roberts, Ravi Sachidanandam, Stephan J. Sanders, Howard S. Seiden, Mathew W. State, Sailakshmi Subramanian, Irina R. Tikhonova, Wei Wang, Dorothy Warburton, Peter S. White, Ismee A. Williams, Hongyu Zhao, Jonathan G. Seidman, Martina Brueckner (), Wendy K. Chung (), Bruce D. Gelb (), Elizabeth Goldmuntz (), Christine E. Seidman () and Richard P. Lifton ()
Additional contact information
Samir Zaidi: Yale University School of Medicine
Murim Choi: Yale University School of Medicine
Hiroko Wakimoto: Harvard Medical School
Lijiang Ma: Columbia University Medical Center
Jianming Jiang: Harvard Medical School
John D. Overton: Yale University School of Medicine
Angela Romano-Adesman: Steven and Alexandra Cohen Children’s Medical Center of New York
Robert D. Bjornson: Yale Center for Genome Analysis, Yale University
Roger E. Breitbart: Children’s Hospital Boston
Kerry K. Brown: Harvard Medical School
Nicholas J. Carriero: Yale Center for Genome Analysis, Yale University
Yee Him Cheung: Mailman School of Public Health, Columbia University, New York, New York 10032, USA
John Deanfield: University College London, Great Ormond Street Hospital
Steve DePalma: Harvard Medical School
Khalid A. Fakhro: Yale University School of Medicine
Joseph Glessner: Center for Applied Genomics, The Children’s Hospital of Philadelphia
Hakon Hakonarson: Center for Applied Genomics, The Children’s Hospital of Philadelphia
Michael J. Italia: The Center for Biomedical Informatics, The Children’s Hospital of Philadelphia
Jonathan R. Kaltman: National Heart, Lung, and Blood Institute, National Institutes of Health
Juan Kaski: University College London, Great Ormond Street Hospital
Richard Kim: Section of Cardiothoracic Surgery, University of Southern California Keck School of Medicine
Jennie K. Kline: Mailman School of Public Health, Columbia University
Teresa Lee: Columbia University Medical Center
Jeremy Leipzig: The Center for Biomedical Informatics, The Children’s Hospital of Philadelphia
Alexander Lopez: Yale University School of Medicine
Shrikant M. Mane: Yale University School of Medicine
Laura E. Mitchell: Human Genetics and Environmental Sciences, University of Texas School of Public Health
Jane W. Newburger: Children’s Hospital Boston
Michael Parfenov: Harvard Medical School
Itsik Pe’er: Columbia University
George Porter: University of Rochester Medical Center, The School of Medicine and Dentistry
Amy E. Roberts: Children’s Hospital Boston
Ravi Sachidanandam: Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
Stephan J. Sanders: Yale University School of Medicine
Howard S. Seiden: Icahn School of Medicine at Mount Sinai
Mathew W. State: Yale University School of Medicine
Sailakshmi Subramanian: Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
Irina R. Tikhonova: Yale University School of Medicine
Wei Wang: The Center for Biomedical Informatics, The Children’s Hospital of Philadelphia
Dorothy Warburton: Columbia University Medical Center
Peter S. White: The Perelman School of Medicine, University of Pennsylvania
Ismee A. Williams: Columbia University Medical Center
Hongyu Zhao: Yale University School of Medicine
Jonathan G. Seidman: Harvard Medical School
Martina Brueckner: Yale University School of Medicine
Wendy K. Chung: Columbia University Medical Center
Bruce D. Gelb: Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
Elizabeth Goldmuntz: The Perelman School of Medicine, University of Pennsylvania
Christine E. Seidman: Harvard Medical School
Richard P. Lifton: Yale University School of Medicine

Nature, 2013, vol. 498, issue 7453, 220-223

Abstract: Exome sequencing of patients with congenital heart disease (CHD) and their unaffected parents reveals an excess of strong-effect, protein-altering de novo mutations in genes expressed in the developing heart, many of which regulate chromatin modification in key developmental genes; collectively, these mutations are predicted to account for approximately 10% of severe CHD cases.

Date: 2013
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DOI: 10.1038/nature12141

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