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

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, Emily L. Crawford, Nicholas G. Campbell, Evan T. Geller, Otto Valladares, Chad Schafer, Han Liu, Tuo Zhao, Guiqing Cai, Jayon Lihm, Ruth Dannenfelser, Omar Jabado, Zuleyma Peralta, Uma Nagaswamy, Donna Muzny, Jeffrey G. Reid, Irene Newsham, Yuanqing Wu, Lora Lewis, Yi Han, Benjamin F. Voight, Elaine Lim, Elizabeth Rossin, Andrew Kirby, Jason Flannick, Menachem Fromer, Khalid Shakir, Tim Fennell, Kiran Garimella, Eric Banks, Ryan Poplin, Stacey Gabriel, Mark DePristo, Jack R. Wimbish, Braden E. Boone, Shawn E. Levy, Catalina Betancur, Shamil Sunyaev, Eric Boerwinkle, Joseph D. Buxbaum (), Edwin H. Cook, Bernie Devlin, Richard A. Gibbs, Kathryn Roeder (), Gerard D. Schellenberg, James S. Sutcliffe and Mark J. Daly ()
Additional contact information
Benjamin M. Neale: Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
Yan Kou: 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
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
Paz Polak: Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 7 Cambridge Center
Seungtai Yoon: Seaver Autism Center for Research and Treatment, 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
Jayon Lihm: Seaver Autism Center for Research and Treatment, 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
Elaine Lim: Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
Elizabeth Rossin: Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
Andrew Kirby: Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
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
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
Eric Boerwinkle: Human Genome Sequencing Center, Baylor College of Medicine
Joseph D. Buxbaum: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine
Edwin H. Cook: 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

Nature, 2012, vol. 485, issue 7397, 242-245

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.

Date: 2012
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DOI: 10.1038/nature11011

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