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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.


ABSTRACT: Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (??=?-0.71 to -1.37; P?

SUBMITTER: Sonderby IE 

PROVIDER: S-EPMC7042770 | BioStudies | 2020-01-01

REPOSITORIES: biostudies

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