Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222 and Walters, James Tynan Rhys ORCID: https://orcid.org/0000-0002-6980-4053 2015. What a psychiatrist needs to know about copy number variants. BJPscyh Advances 21 (3) , pp. 157-163. 10.1192/apt.bp.113.012039 |
Abstract
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.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Subjects: | R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry |
Publisher: | Royal College of Psychiatrists |
ISSN: | 2056-4678 |
Last Modified: | 17 Nov 2022 14:17 |
URI: | https://orca.cardiff.ac.uk/id/eprint/84697 |
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