Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Biological Psychiatry
Sandra Martin-BrevetSébastien Jacquemont

Abstract

16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite study, we aimed to quantify the effect of 16p11.2 CNVs on brain structure. Using voxel- and surface-based brain morphometric methods, we analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 individuals with a duplication, and 212 individuals without a CNV. Beyond the 16p11.2-related mirror effect on global brain morphometry, we observe regional mirror differences in the insula (deletion > control > duplication). Other regions are preferentially affected by either the deletion or the duplication: the calcarine cortex and transverse temporal gyrus (deletion > control; Cohen's d > 1), the superior and middle temporal gyri (deletion < control; Cohen's d < -1), and the caudate and hippocampus (control > duplication; -0.5 > Cohen's d > -1). Measures of cognition, language, and social responsiveness and the presence of psychiatric diagnoses do not influence these results. The global and regional effects on brain morphometry due to 16p11.2 CNVs generalize across site, computational method, age, a...Continue Reading

Citations

Jun 4, 2020·Molecular Autism·Danijela DrakulicAdrian J Harwood
Jul 1, 2020·Autism Research : Official Journal of the International Society for Autism Research·Caitlin M HudacRaphael A Bernier
Oct 5, 2018·Molecular Psychiatry·Ida E SønderbyUNKNOWN 16p11.2 European Consortium, for the ENIGMA-CNV working group
Feb 7, 2021·Molecular Autism·Joana Maria Almeida OsórioAnne Manuela Maillard
Feb 23, 2021·Human Brain Mapping·Ida E SønderbyUNKNOWN ENIGMA 22q11.2 Deletion Syndrome Working Group
Mar 6, 2021·Current Opinion in Genetics & Development·Wendy K ChungJohn E Spiro
Mar 22, 2019·Neuron·Claudia Bagni, R Suzanne Zukin
Mar 24, 2021·Translational Psychiatry·Ida E SønderbyUNKNOWN ENIGMA-CNV working group
Apr 4, 2021·Current Opinion in Genetics & Development·Clara A MoreauCarrie E Bearden
Mar 12, 2021·Brain : a Journal of Neurology·Clara A MoreauSebastien Jacquemont
Jul 22, 2021·Translational Psychiatry·Claudia ModenatoSébastien Jacquemont

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