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Genomic structural variation in psychiatric disorders

Published online by Cambridge University Press:  15 October 2012

James J. H. Rucker  and
Peter McGuffin
James J. H. Rucker*
Affiliation:
Kings College London
Peter McGuffin
Affiliation:
Kings College London
*
Address correspondence and reprint requests to: James Rucker, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Kings College London, 16 De Crespigny Park, London SE5 8AF, UK; E-mail: james.rucker@kcl.ac.uk.
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Abstract

Copy number variants (CNVs) are submicroscopic deletions and duplications of genomic material that were previously thought to be rare phenomena. They have now been robustly associated with a variety of disorders such as autism, schizophrenia, and attention-deficit/hyperactivity disorder through an emerging research base in affective disorders. A complex picture is emerging of a polygenic, heterogeneous model of disease, with CNVs conferring broad susceptibility to a variety of neurodevelopmental disorders, rather than specific disorders per se. Although the insights gleaned thus far only represent a small piece of a much larger puzzle, progress has been rapid and new technologies promise even more insights into these hitherto opaque brain disorders. We will discuss CNVs, the current state of evidence for their role in the pathogenesis of classical psychiatric disorders, and the application of such knowledge in clinical settings.

Type
Articles
Information
Development and Psychopathology , Volume 24 , Issue 4: Contributions of the Genetic/Genomic Sciences to Developmental Psychopathology , November 2012 , pp. 1335 - 1344
Copyright
Copyright © Cambridge University Press 2012

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