Copy number variation and schizophrenia

David St Clair

Research output: Contribution to journalArticlepeer-review

75 Citations (Scopus)


Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental retardation. In some cases, the same phenotype can occur irrespective of whether the copy number variant causes a deletion or duplication. Some of these mutations occur at very high rates in human populations, but because of reduced fecundity associated with major psychiatric disorders the overall frequency in the population remains low. These new findings raise fundamental clinical and scientific questions concerning classification of major neuropsychiatric disorders, modes of inheritance, diagnostics, and genetic counseling. Although the loci identified so far account for only a small proportion of cases, many more are likely to be discovered over the next few years. A major focus of research will be to identify the key, the genetic and environmental determinants of schizophrenia risk in carriers of these copy number variants, and to discover whether their rates of mutation are unstable or fixed.
Original languageEnglish
Pages (from-to)9-12
Number of pages4
JournalSchizophrenia Bulletin
Issue number1
Early online date5 Nov 2008
Publication statusPublished - Jan 2009


  • chromosome aberrations
  • gene dosage
  • genetic variation
  • humans
  • point mutation
  • schizophrenia
  • CNV
  • genome


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