Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Joseph T. Glessner, Kai Wang, Guiqing Cai, Olena Korvatska, Cecilia E. Kim, Shawn Wood, Haitao Zhang, Annette Estes, Camille W. Brune, Jonathan P. Bradfield, Marcin Imielinski, Edward C. Frackelton, Jennifer Reichert, Emily L. Crawford, Jeffrey Munson, Patrick M. A. Sleiman, Rosetta Chiavacci, Kiran Annaiah, Kelly Thomas, Cuiping Hou, Wendy Glaberson, James Flory, Frederick Otieno, Maria Garris, Latha Soorya, Lambertus Klei, Joseph Piven, Kacie J. Meyer, Evdokia Anagnostou, Takeshi Sakurai, Rachel M. Game, Danielle S. Rudd, Danielle Zurawiecki, Christopher J. McDougle, Lea K. Davis, Judith Miller, David J. Posey, Shana Michaels, Alexander Kolevzon, Jeremy M. Silverman, Raphael Bernier, Susan E. Levy, Robert T. Schultz, Geraldine Dawson, Thomas Owley, William M. McMahon, Thomas H. Wassink, John A. Sweeney, John I. Nurnberger, Hilary Coon, James S. Sutcliffe, Nancy J. Minshew, Struan F. A. Grant, Maja Bucan, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Gerard D. Schellenberg () and Hakon Hakonarson ()
Additional contact information
Joseph T. Glessner: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Kai Wang: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Guiqing Cai: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Olena Korvatska: University of Washington, Seattle, Washington 98105, USA
Cecilia E. Kim: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Shawn Wood: University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA
Haitao Zhang: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Annette Estes: University of Washington, Seattle, Washington 98105, USA
Camille W. Brune: University of Illinois at Chicago, Chicago, Illinois 60608, USA
Jonathan P. Bradfield: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Marcin Imielinski: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Edward C. Frackelton: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Jennifer Reichert: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Emily L. Crawford: Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37235, USA
Jeffrey Munson: University of Washington, Seattle, Washington 98105, USA
Patrick M. A. Sleiman: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Rosetta Chiavacci: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Kiran Annaiah: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Kelly Thomas: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Cuiping Hou: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Wendy Glaberson: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
James Flory: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Frederick Otieno: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Maria Garris: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Latha Soorya: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Lambertus Klei: University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA
Joseph Piven: University of North Carolina, Chapel Hill, North Carolina 27412, USA
Kacie J. Meyer: University of Iowa, Iowa City, Iowa 52242, USA
Evdokia Anagnostou: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Takeshi Sakurai: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Rachel M. Game: Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37235, USA
Danielle S. Rudd: University of Iowa, Iowa City, Iowa 52242, USA
Danielle Zurawiecki: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Christopher J. McDougle: Indiana University, Indianapolis, Indiana 46202, USA
Lea K. Davis: University of Iowa, Iowa City, Iowa 52242, USA
Judith Miller: University of Utah, Salt Lake City, Utah 84112, USA
David J. Posey: Indiana University, Indianapolis, Indiana 46202, USA
Shana Michaels: University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA
Alexander Kolevzon: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Jeremy M. Silverman: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Raphael Bernier: University of Washington, Seattle, Washington 98105, USA
Susan E. Levy: Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Robert T. Schultz: Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Geraldine Dawson: University of Washington, Seattle, Washington 98105, USA
Thomas Owley: University of Illinois at Chicago, Chicago, Illinois 60608, USA
William M. McMahon: University of Utah, Salt Lake City, Utah 84112, USA
Thomas H. Wassink: University of Iowa, Iowa City, Iowa 52242, USA
John A. Sweeney: University of Illinois at Chicago, Chicago, Illinois 60608, USA
John I. Nurnberger: Indiana University, Indianapolis, Indiana 46202, USA
Hilary Coon: University of Utah, Salt Lake City, Utah 84112, USA
James S. Sutcliffe: Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37235, USA
Nancy J. Minshew: University of Pittsburg School of Medicine, Pittsburg, Pennsylvania 15260, USA
Struan F. A. Grant: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Maja Bucan: Dept of Genetics, Biology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Edwin H. Cook: University of Illinois at Chicago, Chicago, Illinois 60608, USA
Joseph D. Buxbaum: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA
Bernie Devlin: University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA
Gerard D. Schellenberg: University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Hakon Hakonarson: Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA

Nature, 2009, vol. 459, issue 7246, 569-573

Abstract: Susceptibility to autism Several lines of evidence point to genetic involvement in autism spectrum disorders (ASDs), neurodevelopmental and neuropsychiatric disorders characterized by impaired verbal communication and social interaction. The clinical and genetic complexities of the condition make it difficult to identify susceptibility factors, but two related studies now present robust evidence for a genetic involvement. The first, a genome-wide association study, identifies six single-nucleotide polymorphisms strongly associated with autism. These variants lie between two genes encoding neuronal cell-adhesion molecules (cadherins 9 and 10), suggesting possible involvement in ASD pathogenesis. The second study used copy number variation screens to identify genetic variants in two major gene pathways in children with ASDs. The changes are in the ubiquitin pathway, which has previously been associated with neurological disease, and in genes for neuronal cell-adhesion molecules.

Date: 2009
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DOI: 10.1038/nature07953

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