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Research Article

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

  • Maja Bucan equal contributor mail,

    equal contributor Contributed equally to this work with: Maja Bucan, Brett S. Abrahams, Kai Wang

    bucan@pobox.upenn.edu (MB); hakonarson@chop.edu (HH)

    Affiliations: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America, Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Brett S. Abrahams equal contributor,

    equal contributor Contributed equally to this work with: Maja Bucan, Brett S. Abrahams, Kai Wang

    Affiliation: Department of Neurology, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Kai Wang equal contributor,

    equal contributor Contributed equally to this work with: Maja Bucan, Brett S. Abrahams, Kai Wang

    Affiliations: Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Joseph T. Glessner,

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Edward I. Herman,

    Affiliation: Department of Neurology, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Lisa I. Sonnenblick,

    Affiliation: Department of Neurology, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Ana I. Alvarez Retuerto,

    Affiliations: Department of Psychiatry, University of California Los Angeles, Philadelphia, Pennsylvania, United States of America, Center for Autism Research, Semel Institute for Neuroscience and Behavior, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Marcin Imielinski,

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Dexter Hadley,

    Affiliations: Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Jonathan P. Bradfield,

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Cecilia Kim,

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Nicole B. Gidaya,

    Affiliation: Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Ingrid Lindquist,

    Affiliation: Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Ted Hutman,

    Affiliation: Center for Autism Research, Semel Institute for Neuroscience and Behavior, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Marian Sigman,

    Affiliation: Center for Autism Research, Semel Institute for Neuroscience and Behavior, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Vlad Kustanovich,

    Affiliation: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America

    X
  • Clara M. Lajonchere,

    Affiliations: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America, Department of Biomedical Engineering, University of Southern California, Los Angeles, California, United States of America

    X
  • Andrew Singleton,

    Affiliation: Porter Neuroscience Research Center, National Institute on Aging, National Institute of Health, Bethesda, Maryland, United States of America

    X
  • Junhyong Kim,

    Affiliations: Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America, Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Thomas H. Wassink,

    Affiliation: Department of Psychiatry, University of Iowa, Iowa City, Iowa, United States of America

    X
  • William M. McMahon,

    Affiliation: Department of Psychiatry, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Thomas Owley,

    Affiliation: Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, United States of America

    X
  • John A. Sweeney,

    Affiliation: Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, United States of America

    X
  • Hilary Coon,

    Affiliation: Department of Psychiatry, University of Utah, Salt Lake City, Utah, United States of America

    X
  • John I. Nurnberger Jr,

    Affiliation: Department of Psychiatry, Indiana University, Indianapolis, Indiana, United States of America

    X
  • Mingyao Li,

    Affiliation: Department of Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Rita M. Cantor,

    Affiliations: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America, Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Nancy J. Minshew,

    Affiliation: Department of Psychiatry and Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America

    X
  • James S. Sutcliffe,

    Affiliation: Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Vanderbilt University, Nashville, Tennessee, United States of America

    X
  • Edwin H. Cook,

    Affiliation: Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, United States of America

    X
  • Geraldine Dawson,

    Affiliation: Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina, United States of America

    X
  • Joseph D. Buxbaum,

    Affiliation: Seaver Autism Center for Research and Treatment, Departments of Psychiatry, Neuroscience, Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York

    X
  • Struan F. A. Grant,

    Affiliations: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America, Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Gerard D. Schellenberg,

    Affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Daniel H. Geschwind,

    Affiliations: Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America, Department of Neurology, University of California Los Angeles, Los Angeles, California, United States of America, Department of Psychiatry, University of California Los Angeles, Philadelphia, Pennsylvania, United States of America, Center for Autism Research, Semel Institute for Neuroscience and Behavior, University of California Los Angeles, Los Angeles, California, United States of America, Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America

    X
  • Hakon Hakonarson mail

    bucan@pobox.upenn.edu (MB); hakonarson@chop.edu (HH)

    Affiliations: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America, Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Published: June 26, 2009
  • DOI: 10.1371/journal.pgen.1000536

About the Authors

Maja Bucan, Vlad Kustanovich, Clara M. Lajonchere, Rita M. Cantor, Daniel H. Geschwind
Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America
Maja Bucan, Kai Wang, Dexter Hadley, Nicole B. Gidaya, Ingrid Lindquist
Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
Maja Bucan, Junhyong Kim
Penn Center for Bioinformatics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
Brett S. Abrahams, Edward I. Herman, Lisa I. Sonnenblick, Daniel H. Geschwind
Department of Neurology, University of California Los Angeles, Los Angeles, California, United States of America
Kai Wang, Joseph T. Glessner, Marcin Imielinski, Jonathan P. Bradfield, Cecilia Kim, Struan F. A. Grant, Hakon Hakonarson
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
Ana I. Alvarez Retuerto, Daniel H. Geschwind
Department of Psychiatry, University of California Los Angeles, Philadelphia, Pennsylvania, United States of America
Ana I. Alvarez Retuerto, Ted Hutman, Marian Sigman, Daniel H. Geschwind
Center for Autism Research, Semel Institute for Neuroscience and Behavior, University of California Los Angeles, Los Angeles, California, United States of America
Dexter Hadley, Junhyong Kim
Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
Clara M. Lajonchere
Department of Biomedical Engineering, University of Southern California, Los Angeles, California, United States of America
Andrew Singleton
Porter Neuroscience Research Center, National Institute on Aging, National Institute of Health, Bethesda, Maryland, United States of America
Thomas H. Wassink
Department of Psychiatry, University of Iowa, Iowa City, Iowa, United States of America
William M. McMahon, Hilary Coon
Department of Psychiatry, University of Utah, Salt Lake City, Utah, United States of America
Thomas Owley, John A. Sweeney, Edwin H. Cook
Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, United States of America
John I. Nurnberger Jr
Department of Psychiatry, Indiana University, Indianapolis, Indiana, United States of America
Mingyao Li
Department of Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
Rita M. Cantor, Daniel H. Geschwind
Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America
Nancy J. Minshew
Department of Psychiatry and Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
James S. Sutcliffe
Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Vanderbilt University, Nashville, Tennessee, United States of America
Geraldine Dawson
Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina, United States of America
Joseph D. Buxbaum
Seaver Autism Center for Research and Treatment, Departments of Psychiatry, Neuroscience, Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York
Struan F. A. Grant, Hakon Hakonarson
Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
Gerard D. Schellenberg
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

Corresponding Authors

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: MB BSA KW DHG HH. Performed the experiments: BSA LIS CK. Analyzed the data: MB BSA KW JTG EIH MI DH JPB NBG IL JK ML RMC SFAG. Contributed reagents/materials/analysis tools: AIAR TH MS VK CML AS THW WMM TO JAS HC JIN NJM JSS EHC GD JDB GDS. Wrote the paper: MB BSA KW SFAG DHG HH.