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Copy-number variations associated with neuropsychiatric conditions

Nature volume 455, pages 919–923 (2008)Cite this article

Abstract

Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to genetic alterations, but identifying the genes responsible has proved challenging. Microarray experiments have now revealed abundant copy-number variation — a type of variation in which stretches of DNA are duplicated, deleted and sometimes rearranged — in the human population. Genes affected by copy-number variation are good candidates for research into disease susceptibility. The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy-number variants and the genes that they affect needs to be considered in an integrated context.

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Figure 1: Model of the relative contribution of CNVs in susceptibility to ASD.
Figure 2: Assessing the relevance of CNV.

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Acknowledgements

We thank P. Szatmari, R. Weksberg, C. Marshall, L. Feuk and D. Pinto for ideas. Research in our laboratories is supported by The Centre for Applied Genomics, Genome Canada–Ontario Genomics Institute, the Canadian Institutes for Health Research (CIHR), the Canadian Institute for Advanced Research, the McLaughlin Centre for Molecular Medicine, the Canadian Foundation for Innovation, the Ontario Ministry of Research & Innovation, the National Institutes of Health (grant number HD055751, to E.H.C.), Children's Brain Research Foundation, Jean Young and Walden W. Shaw Foundation, Autism Speaks, and the SickKids Foundation. S.W.S. holds the GlaxoSmithKline–CIHR Chair in Genetics and Genomics at the University of Toronto and the Hospital for Sick Children.

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Authors and Affiliations

  1. Department of Psychiatry, Institute for Juvenile Research, University of Illinois, 1747 West Roosevelt Road, Chicago, Illinois 60608, USA.,

    Edwin H. Cook Jr

  2. The Centre for Applied Genomics, Hospital for Sick Children, 14th floor, Toronto Medical Discovery Tower/MaRS Discovery District, 101 College Street, Toronto, M5G 1L7, Ontario, Canada.

    Stephen W. Scherer

  3. Department of Molecular Genetics, University of Toronto, Room 4396, 1 King's Circle, Toronto, M5S 1A8, Ontario, Canada

    Stephen W. Scherer

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Correspondence should be addressed to S.W.S. (steve@genet.sickkids.on.ca).

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Cook Jr, E., Scherer, S. Copy-number variations associated with neuropsychiatric conditions. Nature 455, 919–923 (2008). https://doi.org/10.1038/nature07458

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