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

Author

Listed:
  • Samir Zaidi

    (Yale University School of Medicine
    Howard Hughes Medical Institute, Yale University)

  • Murim Choi

    (Yale University School of Medicine
    Howard Hughes Medical Institute, Yale University)

  • Hiroko Wakimoto

    (Harvard Medical School)

  • Lijiang Ma

    (Columbia University Medical Center)

  • Jianming Jiang

    (Harvard Medical School
    Howard Hughes Medical Institute, Harvard University)

  • John D. Overton

    (Yale University School of Medicine
    Yale Center for Mendelian Genomics
    Yale Center for Genome Analysis, Yale University)

  • Angela Romano-Adesman

    (Steven and Alexandra Cohen Children’s Medical Center of New York)

  • Robert D. Bjornson

    (Yale Center for Genome Analysis, Yale University
    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
    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
    Howard Hughes Medical Institute, Yale University)

  • Joseph Glessner

    (Center for Applied Genomics, The Children’s Hospital of Philadelphia)

  • Hakon Hakonarson

    (Center for Applied Genomics, The Children’s Hospital of Philadelphia
    The Perelman School of Medicine, University of Pennsylvania)

  • 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
    Yale Center for Mendelian Genomics
    Yale Center for Genome Analysis, Yale University)

  • Shrikant M. Mane

    (Yale University School of Medicine
    Yale Center for Mendelian Genomics
    Yale Center for Genome Analysis, Yale University)

  • 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
    Program on Neurogenetics, Child Study Center, Yale University)

  • Howard S. Seiden

    (Icahn School of Medicine at Mount Sinai)

  • Mathew W. State

    (Yale University School of Medicine
    Program on Neurogenetics, Child Study Center, Yale University)

  • Sailakshmi Subramanian

    (Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai)

  • Irina R. Tikhonova

    (Yale University School of Medicine
    Yale Center for Mendelian Genomics
    Yale Center for Genome Analysis, Yale University)

  • Wei Wang

    (The Center for Biomedical Informatics, The Children’s Hospital of Philadelphia
    New Jersey Institute of Technology)

  • Dorothy Warburton

    (Columbia University Medical Center
    Columbia University Medical Center)

  • Peter S. White

    (The Perelman School of Medicine, University of Pennsylvania
    The Center for Biomedical Informatics, The Children’s Hospital of Philadelphia)

  • Ismee A. Williams

    (Columbia University Medical Center)

  • Hongyu Zhao

    (Yale University School of Medicine
    Yale School of Public Health)

  • Jonathan G. Seidman

    (Harvard Medical School)

  • Martina Brueckner

    (Yale University School of Medicine
    Department of Pediatrics Yale University School of Medicine)

  • Wendy K. Chung

    (Columbia University Medical Center
    Columbia University Medical Center)

  • Bruce D. Gelb

    (Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
    Icahn School of Medicine at Mount Sinai
    The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai)

  • Elizabeth Goldmuntz

    (The Perelman School of Medicine, University of Pennsylvania
    The Children’s Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine)

  • Christine E. Seidman

    (Harvard Medical School
    Howard Hughes Medical Institute, Harvard University
    Brigham & Women’s Hospital, Harvard University)

  • Richard P. Lifton

    (Yale University School of Medicine
    Howard Hughes Medical Institute, Yale University
    Yale Center for Mendelian Genomics
    Yale Center for Genome Analysis, Yale University)

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.

Suggested Citation

  • 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 & Y, 2013. "De novo mutations in histone-modifying genes in congenital heart disease," Nature, Nature, vol. 498(7453), pages 220-223, June.
    • Handle: RePEc:nat:nature:v:498:y:2013:i:7453:d:10.1038_nature12141
    DOI: 10.1038/nature12141
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    Cited by:

    1. Mengmeng Huang & Alexander A. Akerberg & Xiaoran Zhang & Haejin Yoon & Shakchhi Joshi & Celia Hallinan & Christopher Nguyen & William T. Pu & Marcia C. Haigis & C. Geoffrey Burns & Caroline E. Burns, 2022. "Intrinsic myocardial defects underlie an Rbfox-deficient zebrafish model of hypoplastic left heart syndrome," Nature Communications, Nature, vol. 13(1), pages 1-14, December.

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