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Nature 455, 919-923 (16 October 2008) | doi:10.1038/nature07458; Published online 15 October 2008
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Review Article Copy-number variations associated with neuropsychiatric conditions
Edwin H. Cook Jr1 & Stephen W. Scherer2,3
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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