Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.

Ana I Silva; Ida E Sønderby; George Kirov; Abdel Abdellaoui; Ingrid Agartz; David Ames; Nicola J Armstrong; Eric Artiges; Tobias Banaschewski; Anne S Bassett; Carrie E Bearden; John Blangero; Rune Boen; Dorret I Boomsma; Robin Bülow; Nancy J Butcher; Vince Calhoun; Linda E Campbell; Eva WC Chow; Simone Ciufolini; Michael C Craig; Benedicto Crespo-Farroco; Adam C Cunningham; Shareefa Dalvie; Eileen Daly; Paola Dazzan; Eco JC de Geus; Greig I de Zubicaray; Joanne L Doherty; Gary Donohoe; Mark Drakesmith; Thomas Espeseth; Vincent Frouin; Hugh Garavan; David C Glahn; Naomi J Goodrich-Hunsaker; Penny A Gowland; Hans J Grabe; Antoine Grigis; Maria Gudbrandsen; Boris A Gutman; Jan Haavik; Asta K Håberg; Jeremy Hall; Andreas Heinz; Sarah Hohmann; Jouke-Jan Hottenga; Sébastien Jacquemont; Neda Jahanshad; Rachel K Jonas; Derek K Jones; Erik G Jönsson; Sanne Koops; Kuldeep Kumar; Stephanie Le Hellard; Herve Lemaitre; Jingyu Liu; Astri J Lundervold; Jean-Luc Martinot; Karen A Mather; Donna M McDonald-McGinn; Katie L McMahon; Allan F McRae; Sarah E Medland; Clara A Moreau; Kieran C Murphy; Declan Murphy; Robin M Murray; Frauke Nees; Michael J Owen; Marie-Laure Paillère Martinot; Diimitri Papadopoulos Orfanos; Tomas Paus; Luise Poustka; Tiago Reis Marques; David R Roalf; Perminder S Sachdev; Freda Scheffler; J Eric Schmitt; Gunter Schumann; Vidar M Steen; Dan J Stein; Lachlan T Strike; Alexander Teumer; Anbupalam Thalamuthu; Sophia I Thomopoulos; Diana Tordesillas-Gutiérrez; Julian N Trollor; Anne Uhlmann; Ariana Vajdi; Dennis van 't Ent; Therese van Amelsvoort; Marianne BM van den Bree; Dennis van der Meer; Javier Vázquez-Bourgon; Julio E Villalón-Reina; Uwe Völker; Henry Völzke; Jacob AS Vorstman; Lars T Westlye; Nigel Williams; Katharina Wittfeld; Margaret J Wright; Paul M Thompson; Ole A Andreassen; David EJ Linden; ENIGMA-CNV Working Group

Journal article

Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology.

Ana I Silva, Ida E Sønderby, George Kirov, Abdel Abdellaoui, Ingrid Agartz, David Ames, Nicola J Armstrong, Eric Artiges, Tobias Banaschewski, Anne S Bassett, Carrie E Bearden, John Blangero, Rune Boen, Dorret I Boomsma, Robin Bülow, Nancy J Butcher, Vince Calhoun, Linda E Campbell, Eva WC Chow, Simone Ciufolini Show all

Biol Psychiatry Cogn Neurosci Neuroimaging | Published : 2025

DOI: 10.1016/j.bpsc.2025.05.010

Open access

Download PDF

Abstract

BACKGROUND: Copy number variants (CNVs) may increase the risk for neurodevelopmental conditions. The neurobiological mechanisms that link these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals who carry CNVs are associated with their degree of penetrance. METHODS: We investigated whether increased CNV penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA (Enhancing Neuro Imaging Genetics through Meta Analysis)-CNV consorti..

View full abstract