CNVs conferring risk of autism or schizophrenia affect cognition in controls.
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Walters, G Bragi
Jonsdottir, Gudrun A
Doyle, Orla M
Davidsdottir, Solveig R
Gudmundsson, Larus J
Jonsson, Gudbjorn F
Thygesen, Johan H
Schwarz, Adam J
Stensbøl, Tine B
Halldorsson, Jonas G
MetadataShow full item record
CitationNature 2014, 505 (7483):361-6
AbstractIn a small fraction of patients with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis of the disease. These CNVs may provide an entry point for investigations into the mechanisms of brain function and dysfunction alike. They are not fully penetrant and offer an opportunity to study their effects separate from that of manifest disease. Here we show in an Icelandic sample that a few of the CNVs clearly alter fecundity (measured as the number of children by age 45). Furthermore, we use various tests of cognitive function to demonstrate that control subjects carrying the CNVs perform at a level that is between that of schizophrenia patients and population controls. The CNVs do not all affect the same cognitive domains, hence the cognitive deficits that drive or accompany the pathogenesis vary from one CNV to another. Controls carrying the chromosome 15q11.2 deletion between breakpoints 1 and 2 (15q11.2(BP1-BP2) deletion) have a history of dyslexia and dyscalculia, even after adjusting for IQ in the analysis, and the CNV only confers modest effects on other cognitive traits. The 15q11.2(BP1-BP2) deletion affects brain structure in a pattern consistent with both that observed during first-episode psychosis in schizophrenia and that of structural correlates in dyslexia.
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- 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.
- Authors: Ulfarsson MO, Walters GB, Gustafsson O, Steinberg S, Silva A, Doyle OM, Brammer M, Gudbjartsson DF, Arnarsdottir S, Jonsdottir GA, Gisladottir RS, Bjornsdottir G, Helgason H, Ellingsen LM, Halldorsson JG, Saemundsen E, Stefansdottir B, Jonsson L, Eiriksdottir VK, Eiriksdottir GR, Johannesdottir GH, Unnsteinsdottir U, Jonsdottir B, Magnusdottir BB, Sulem P, Thorsteinsdottir U, Sigurdsson E, Brandeis D, Meyer-Lindenberg A, Stefansson H, Stefansson K
- Issue date: 2017 Apr 25
- Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
- Authors: Writing Committee for the ENIGMA-CNV Working Group., van der Meer D, Sønderby IE, Kaufmann T, Walters GB, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Cahn W, Calhoun VD, Caspers S, Cavalleri GL, Ching CRK, Cichon S, Ciufolini S, Corvin A, Crespo-Facorro B, Curran JE, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Delanty N, den Braber A, Desrivieres S, Di Forti M, Doherty JL, Donohoe G, Ehrlich S, Eising E, Espeseth T, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jacquemont S, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Kikuchi M, Knowles EEM, Kwok JB, Le Hellard S, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Martin NG, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Moberget T, Moreau C, Morris DW, Mühleisen TW, Murray RM, Nordvik JE, Nyberg L, Olde Loohuis LM, Ophoff RA, Owen MJ, Paus T, Pausova Z, Peralta JM, Pike B, Prieto C, Quinlan EB, Reinbold CS, Reis Marques T, Rucker JJH, Sachdev PS, Sando SB, Schofield PR, Schork AJ, Schumann G, Shin J, Shumskaya E, Silva AI, Sisodiya SM, Steen VM, Stein DJ, Strike LT, Tamnes CK, Teumer A, Thalamuthu A, Tordesillas-Gutiérrez D, Uhlmann A, Úlfarsson MÖ, van 't Ent D, van den Bree MBM, Vassos E, Wen W, Wittfeld K, Wright MJ, Zayats T, Dale AM, Djurovic S, Agartz I, Westlye LT, Stefánsson H, Stefánsson K, Thompson PM, Andreassen OA
- Issue date: 2020 Apr 1
- Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
- Authors: Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH Jr, Kim SJ
- Issue date: 2014 Jun
- Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia.
- Authors: Takahashi S, Suzuki T, Nakamura-Tomizuka S, Osaki K, Sotome Y, Sagawa T, Uchiyama M
- Issue date: 2015 Jun
- Analysis of 15q11.2 CNVs in an Indian population with schizophrenia.
- Authors: Saxena S, Kkani P, Ramasubramanian C, Kumar SG, Monisha R, Prasad Rao G, Mohan KN
- Issue date: 2019 May