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Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers\u2014the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.<\/jats:p>","DOI":"10.1038\/s41398-021-01213-0","type":"journal-article","created":{"date-parts":[[2021,3,22]],"date-time":"2021-03-22T13:03:06Z","timestamp":1616418186000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans"],"prefix":"10.1038","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7297-7855","authenticated-orcid":false,"given":"Ida E.","family":"S\u00f8nderby","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0466-386X","authenticated-orcid":false,"given":"Dennis","family":"van der Meer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6217-731X","authenticated-orcid":false,"given":"Clara","family":"Moreau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4003-1018","authenticated-orcid":false,"given":"Tobias","family":"Kaufmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5415-6487","authenticated-orcid":false,"given":"G. 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He has received research funding from the EU \u2018Joint Programme Neurodegenerative Disorders\u2019 (JPND) and the National Health and Medical Research Council, Australia. H.J.G. has received travel grants and speakers honoraria from Fresenius Medical Care, Servier, Neuraxpharm and Janssen Cilag. He has received research funding from the German Research Foundation (DFG), the German Ministry of Education and Research (BMBF), the DAMP Foundation, Fresenius Medical Care, the EU \u2018Joint Programme Neurodegenerative Disorders\u2019 (JPND) and the European Social Fund (ESF). C.R.K.C., P.M.T. and N.J. received partial grant support from Biogen Inc. (Boston), for research unrelated to the topic of this manuscript. B.C.-F. has received honoraria from Janssen Cilag, Otsuka and Lundbeck for educational and advisory\/consultant activities unrelated with the present research. A.M.D. is a Founder of and holds equity in CorTechs Labs Inc., and serves on its Scientific Advisory Board. He is also a member of the Scientific Advisory Board of Human Longevity Inc., and receives funding through a research agreement with General Electric Healthcare (GEHC). The terms of these arrangements have been reviewed and approved by the University of California, San Diego in accordance with its conflict of interest policies. G.B.W., O.G., M.O.U., H.S. and K.S. are employees of deCODE genetics (Amgen). D.P.H. is an employee of Genentech Inc. O.A.A. has received speakers honorarium from Lundbeck, and is a consultant to HealthLytix. A.J.L. has received speaker\u2019s honorarium from Shire. M.J.O., J.H. and v.d.B. report grants from Takeda Pharmaceuticals outside of the submitted work. D.J.S. has received research grants and\/or consultancy honoraria from Lundbeck and Sun. D.E.J.L. receives book royalties from Springer Nature and Oxford University Press. T.F. is on the Novo Nordisk advisory board. P.S.S. is on the Expert Advisory Committee of Biogen Australia. All other authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"182"}}