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Patterns and rates of exonic de novo mutations in autism spectrum disorders

Author

Listed:
  • Benjamin M. Neale

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Yan Kou

    (Mount Sinai School of Medicine
    Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine)

  • Li Liu

    (Carnegie Mellon University)

  • Avi Ma’ayan

    (Mount Sinai School of Medicine)

  • Kaitlin E. Samocha

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Aniko Sabo

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Chiao-Feng Lin

    (Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania)

  • Christine Stevens

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Li-San Wang

    (Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania)

  • Vladimir Makarov

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine
    Mount Sinai School of Medicine)

  • Paz Polak

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center
    Division of Genetics, Department of Medicine Brigham & Women's Hospital and Harvard Medical School)

  • Seungtai Yoon

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine
    Mount Sinai School of Medicine)

  • Jared Maguire

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Emily L. Crawford

    (Vanderbilt Brain Institute, Vanderbilt University)

  • Nicholas G. Campbell

    (Vanderbilt Brain Institute, Vanderbilt University)

  • Evan T. Geller

    (Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania)

  • Otto Valladares

    (Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania)

  • Chad Schafer

    (Carnegie Mellon University)

  • Han Liu

    (Johns Hopkins University)

  • Tuo Zhao

    (Johns Hopkins University)

  • Guiqing Cai

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine
    Mount Sinai School of Medicine)

  • Jayon Lihm

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine
    Mount Sinai School of Medicine)

  • Ruth Dannenfelser

    (Mount Sinai School of Medicine)

  • Omar Jabado

    (Mount Sinai School of Medicine)

  • Zuleyma Peralta

    (Mount Sinai School of Medicine)

  • Uma Nagaswamy

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Donna Muzny

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Jeffrey G. Reid

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Irene Newsham

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Yuanqing Wu

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Lora Lewis

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Yi Han

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Benjamin F. Voight

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center
    University of Pennsylvania, Perelman School of Medicine)

  • Elaine Lim

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Elizabeth Rossin

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Andrew Kirby

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Jason Flannick

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Menachem Fromer

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Khalid Shakir

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Tim Fennell

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Kiran Garimella

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Eric Banks

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Ryan Poplin

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Stacey Gabriel

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Mark DePristo

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

  • Jack R. Wimbish

    (HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA)

  • Braden E. Boone

    (HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA)

  • Shawn E. Levy

    (HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA)

  • Catalina Betancur

    (INSERM U952 and CNRS UMR 7224 and UPMC Univ Paris 06)

  • Shamil Sunyaev

    (Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center
    Division of Genetics, Department of Medicine Brigham & Women's Hospital and Harvard Medical School)

  • Eric Boerwinkle

    (Human Genome Sequencing Center, Baylor College of Medicine
    Human Genetics Center, University of Texas Health Science Center at Houston)

  • Joseph D. Buxbaum

    (Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine
    Mount Sinai School of Medicine
    Mount Sinai School of Medicine
    Friedman Brain Institute, Mount Sinai School of Medicine)

  • Edwin H. Cook Jr

    (University of Illinois at Chicago)

  • Bernie Devlin

    (University of Pittsburgh School of Medicine)

  • Richard A. Gibbs

    (Human Genome Sequencing Center, Baylor College of Medicine)

  • Kathryn Roeder

    (Carnegie Mellon University)

  • Gerard D. Schellenberg

    (Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania)

  • James S. Sutcliffe

    (Vanderbilt Brain Institute, Vanderbilt University)

  • Mark J. Daly

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center)

Abstract

Exome sequencing of 175 autism spectrum disorder parent–child trios reveals that few de novo point mutations have a role in autism spectrum disorder and those that do are distributed across many genes and are incompletely penetrant, further supporting extreme genetic heterogeneity of this spectrum disorder.

Suggested Citation

  • Benjamin M. Neale & Yan Kou & Li Liu & Avi Ma’ayan & Kaitlin E. Samocha & Aniko Sabo & Chiao-Feng Lin & Christine Stevens & Li-San Wang & Vladimir Makarov & Paz Polak & Seungtai Yoon & Jared Maguire &, 2012. "Patterns and rates of exonic de novo mutations in autism spectrum disorders," Nature, Nature, vol. 485(7397), pages 242-245, May.
    • Handle: RePEc:nat:nature:v:485:y:2012:i:7397:d:10.1038_nature11011
    DOI: 10.1038/nature11011
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    Citations

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    Cited by:

    1. Tetsushi Sadakata & Yo Shinoda & Akira Sato & Hirotoshi Iguchi & Chiaki Ishii & Makoto Matsuo & Ryosuke Yamaga & Teiichi Furuichi, 2013. "Mouse Models of Mutations and Variations in Autism Spectrum Disorder-Associated Genes: Mice Expressing Caps2/Cadps2 Copy Number and Alternative Splicing Variants," IJERPH, MDPI, vol. 10(12), pages 1-19, November.
    2. Mei Sheng Lau & Zhenhua Hu & Xiaodan Zhao & Yaw Sing Tan & Jinyue Liu & Hua Huang & Clarisse Jingyi Yeo & Hwei Fen Leong & Oleg V. Grinchuk & Justin Kaixuan Chan & Jie Yan & Wee-Wei Tee, 2023. "Transcriptional repression by a secondary DNA binding surface of DNA topoisomerase I safeguards against hypertranscription," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    3. Bian Li & Dan M. Roden & John A. Capra, 2022. "The 3D mutational constraint on amino acid sites in the human proteome," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
    4. Yudong Gao & Daichi Shonai & Matthew Trn & Jieqing Zhao & Erik J. Soderblom & S. Alexandra Garcia-Moreno & Charles A. Gersbach & William C. Wetsel & Geraldine Dawson & Dmitry Velmeshev & Yong-hui Jian, 2024. "Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    5. Sheng Wang & Belinda Wang & Vanessa Drury & Sam Drake & Nawei Sun & Hasan Alkhairo & Juan Arbelaez & Clif Duhn & Vanessa H. Bal & Kate Langley & Joanna Martin & Pieter J. Hoekstra & Andrea Dietrich & , 2023. "Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    6. Abdallah Zayed & Camille Baranowski & Anne-Claire Compagnion & Cécile Vernochet & Samah Karaki & Romain Durand-de Cuttoli & Estefani Saint-Jour & Soumee Bhattacharya & Fabio Marti & Peter Vanhoutte & , 2022. "SWI/SNF chromatin remodeler complex within the reward pathway is required for behavioral adaptations to stress," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
    7. Dang Ton Nguyen & Hai Ha Nguyen & Thuy Duong Nguyen & Thi Thanh Hoa Nguyen & Kaoru Nakano & Kazuhiro Maejima & Aya Sasaki-Oku & Van Ba Nguyen & Duy Bac Nguyen & Bach Quang Le & Jing Hao Wong & Tatsuhi, 2018. "Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability," IJERPH, MDPI, vol. 15(12), pages 1-11, November.
    8. Shujuan Zhao & Kedous Y. Mekbib & Martijn A. Ent & Garrett Allington & Andrew Prendergast & Jocelyn E. Chau & Hannah Smith & John Shohfi & Jack Ocken & Daniel Duran & Charuta G. Furey & Le Thi Hao & P, 2023. "Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations," Nature Communications, Nature, vol. 14(1), pages 1-23, December.

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