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15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.

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Authors
Ulfarsson, M O
Walters, G B
Gustafsson, O
Steinberg, S
Silva, A
Doyle, O M
Brammer, M
Gudbjartsson, D F
Arnarsdottir, S
Jonsdottir, G A
Gisladottir, R S
Bjornsdottir, G
Helgason, H
Ellingsen, L M
Halldorsson, J G
Saemundsen, E
Stefansdottir, B
Jonsson, L
Eiriksdottir, V K
Eiriksdottir, G R
Johannesdottir, G H
Unnsteinsdottir, U
Jonsdottir, B
Magnusdottir, B B
Sulem, P
Thorsteinsdottir, U
Sigurdsson, E
Brandeis, D
Meyer-Lindenberg, A
Stefansson, H
Stefansson, K
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Issue Date
2017-04-25

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15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia. 2017, 7 (4):e1109 Transl Psychiatry
Abstract
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416713/pdf/tp201777a.pdf
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Archived with thanks to Translational psychiatry
ae974a485f413a2113503eed53cd6c53
10.1038/tp.2017.77
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