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

Van Den Bossche, Maarten J. (author)
Johnstone, Mandy (author)
Strazisar, Mojca (author)
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Pickard, Benjamin S. (author)
Goossens, Dirk (author)
Lenaerts, An-Sofie (author)
De Zutter, Sonia (author)
Nordin, Annelie (author)
Umeå universitet,Psykiatri
Norrback, Karl-Fredrik (author)
Umeå universitet,Psykiatri
Mendlewicz, Julien (author)
Souery, Daniel (author)
De Rijk, Peter (author)
Sabbe, Bernard G. (author)
Adolfsson, Rolf (author)
Umeå universitet,Psykiatri
Blackwood, Douglas (author)
Del-Favero, Jurgen (author)
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 (creator_code:org_t)
2012-08-22
2012
English.
In: American Journal of Medical Genetics Part B. - : Wiley. - 1552-4841 .- 1552-485X. ; 159B:7, s. 812-822
Related links:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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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 (12%) 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Psykiatri (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Psychiatry (hsv//eng)

Keyword

copy number variants
schizophrenia
bipolar disorder
major depressive disorder
intellectual disability

Publication and Content Type

ref (subject category)
art (subject category)

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