Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.

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.

Objective

To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance.

Design, setting, and participants

In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-C

SUBMITTER: Writing Committee for the ENIGMA-CNV Working Group 

PROVIDER: S-EPMC6822096 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature