Copy-number variations associated with neuropsychiatric conditions

Nature. 2008 Oct 16;455(7215):919-23. doi: 10.1038/nature07458.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Autistic Disorder / genetics
  • Gene Dosage / genetics*
  • Genetic Predisposition to Disease / genetics
  • Genomics
  • Humans
  • Mental Disorders / genetics*
  • Nervous System Diseases / genetics*
  • Schizophrenia / genetics