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What a psychiatrist needs to know about copy number variants

  • George Kirov, Elliott Rees and James Walters
Summary

Copy number variants (CNVs) are structural changes in chromosomes that result in deletions, duplications, inversions or translocations of large DNA segments. Eleven confirmed CNV loci have been identified as rare but important risk factors in schizophrenia. These CNVs are also associated with other neurodevelopmental disorders and medical/physical comorbidities. Although the penetrance of the CNVs for schizophrenia (the chance that CNV carriers will develop the disorder) is modest, the penetrance of CNVs for any early-onset developmental disorder (e.g. intellectual disability or autism) is much higher. Testing for CNVs is now affordable and being used in clinical genetics and neurodevelopmental disorders clinics. It is possible that testing will be expanded to psychiatric clinics. This article provides a clinically relevant overview of recent CNV findings in schizophrenia and related disorders.

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Copyright
Corresponding author
Professor George Kirov, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University School of Medicine, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK. Email kirov@cardiff.ac.uk
Footnotes
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Learning Objectives

Understand the concept of CNVs and their relevance to neuropsychiatric disorders

Become familiar with the individual and collective frequencies of the main CNVs associated with schizophrenia and their role in schizophrenia and related conditions

Learn about the consequences of these CNVs for the general health and fecundity of carriers, and thus about the role of selection in eliminating these CNVs from the population

Declaration of Interest

None

Footnotes
References
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BJPsych Advances
  • ISSN: 2056-4678
  • EISSN: 2056-4686
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What a psychiatrist needs to know about copy number variants

  • George Kirov, Elliott Rees and James Walters
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