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Rare copy number variants in neuropsychiatric disorders : specific phenotype or not?

Van Den Bossche, Maarten J and Johnstone, Mandy and Strazisar, Mojca and Pickard, Benjamin S and Goossens, Dirk and Lenaerts, An-Sofie and De Zutter, Sonia and Nordin, Annelie and Norrback, Karl-Fredrik and Mendlewicz, Julien and Souery, Daniel and De Rijk, Peter and Sabbe, Bernard G and Adolfsson, Rolf and Blackwood, Douglas and Del-Favero, Jurgen (2012) Rare copy number variants in neuropsychiatric disorders : specific phenotype or not? American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

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From a number of genome-wide association studies it was shown that de novo and/or rare copy number variants (CNVs) are found at an increased frequency in neuropsychiatric diseases. In this study we examined the prevalence of CNVs in six genomic regions (1q21.1, 2p16.3, 3q29, 15q11.2, 15q13.3, and 16p11.2) previously implicated in neuropsychiatric diseases. Hereto, a cohort of four neuropsychiatric disorders (schizophrenia, bipolar disorder, major depressive disorder, and intellectual disability) and control individuals from three different populations was used in combination with Multilpex Amplicon Quantifiaction (MAQ) assays, capable of high resolution (kb range) and custom-tailored CNV detection. Our results confirm the etiological candidacy of the six selected CNV regions for neuropsychiatric diseases. It is possible that CNVs in these regions can result in disturbed brain development and in this way lead to an increased susceptibility for different neuropsychiatric disorders, dependent on additional genetic and environmental factors. Our results also suggest that the neurodevelopmental component is larger in the etiology of schizophrenia and intellectual disability than in mood disorders. Finally, our data suggest that deletions are in general more pathogenic than duplications. Given the high frequency of the examined CNVs (1-2%) in patients of different neuropsychiatric disorders, screening of large cohorts with an affordable and feasible method like the MAQ assays used in this study is likely to result in important progress in unraveling the genetic factors leading to an increased susceptibility for several psychiatric disorders. © 2012 Wiley Periodicals, Inc.