Title | Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition. |
Publication Type | Journal Article |
Year of Publication | 2020 |
Authors | van der Meer D, Sønderby IE, Kaufmann T, G Walters B, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M et al. |
Corporate Authors | Writing Committee for the ENIGMA-CNV Working Group |
Journal | JAMA Psychiatry |
Volume | 77 |
Issue | 4 |
Pagination | 420-430 |
Date Published | 2020 04 01 |
ISSN | 2168-6238 |
Keywords | Brain Cortical Thickness, Cerebral Cortex, Chromosome Breakpoints, Chromosomes, Human, Pair 15, Cognition, DNA Copy Number Variations, Female, Genetic Association Studies, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neuroimaging, Neuropsychological Tests, Organ Size |
Abstract | Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities. |
DOI | 10.1001/jamapsychiatry.2019.3779 |
Pubmed Link | https://www.ncbi.nlm.nih.gov/pubmed/31665216?dopt=Abstract |
page_expo | External |
Alternate Journal | JAMA Psychiatry |
PubMed ID | 31665216 |
PubMed Central ID | PMC6822096 |
Grant List | CS-2017-17-007 / DH_ / Department of Health / United Kingdom MC_QA137853 / MRC_ / Medical Research Council / United Kingdom T32 AG058507 / AG / NIA NIH HHS / United States MC_PC_17228 / MRC_ / Medical Research Council / United Kingdom MR/L010305/1 / MRC_ / Medical Research Council / United Kingdom U54 EB020403 / EB / NIBIB NIH HHS / United States R01 MH116147 / MH / NIMH NIH HHS / United States R56 AG058854 / AG / NIA NIH HHS / United States |
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