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Phenotypic variations on the theme of CNVs

Nature Genetics volume 40, pages 1392–1393 (2008)Cite this article

Copy number variation has emerged as an important type of genetic risk factor for developmental disorders, including the neurodevelopmental disorders schizophrenia, autism and mental retardation. The highly pleiotropic effects observed for specific copy number variants (CNVs) challenge current classification of these disorders, but also provide opportunities to understand their origins and the relationships between them.

Insertions and deletions, collectively referred to as copy number variants (CNVs), have recently been recognized as an important source of human DNA polymorphism1,2,3. It is not surprising then that the opportunities offered by new technologies to scan the genome for CNVs at increasing resolution have been seized with enthusiasm by researchers in many disciplines. The earliest studies were phenotype-led and applied genome-wide CNV analyses to cases with a specified phenotype and a set of controls. Two recent papers, one on page 1466 of this issue by Nicola Brunetti-Pierri and colleagues4 and the other from Evan Eichler and colleagues in The New England Journal of Medicine5, have opted for a CNV-led approach with the aim of characterizing the associated phenotypes.

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Figure 1: Possible relationships between various neurodevelopmental and psychiatric syndromes and a CNV (or any risk factor).

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Authors and Affiliations

  1. George Kirov and Michael J. Owen are in the Department of Psychological Medicine, Michael C. O'Donovan, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK. odonovanmc@cf.ac.uk,

    Michael C O'Donovan, George Kirov & Michael J Owen

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  1. Michael C O'Donovan
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  2. George Kirov
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  3. Michael J Owen
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O'Donovan, M., Kirov, G. & Owen, M. Phenotypic variations on the theme of CNVs. Nat Genet 40, 1392–1393 (2008). https://doi.org/10.1038/ng1208-1392

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