Article (Scientific journals)
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.
Cardenas-de-la-Parra, Alonso; Martin-Brevet, Sandra; Moreau, Clara et al.
2019In NeuroImage, 203, p. 116155
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Keywords :
16p11.2 Copy number variants; Brain development; Genetics; Imaging; Neurodevelopmental disorders; Normative growth trajectories
Abstract :
[en] Most of human genome is present in two copies (maternal and paternal). However, segments of the genome can be deleted or duplicated, and many of these genomic variations (known as Copy Number Variants) are associated with psychiatric disorders. 16p11.2 copy number variants (breakpoint 4-5) confer high risk for neurodevelopmental disorders and are associated with structural brain alterations of large effect-size. Methods used in previous studies were unable to investigate the onset of these alterations and whether they evolve with age. In this study, we aim at characterizing age-related effects of 16p11.2 copy number variants by analyzing a group with a broad age range including younger individuals. A large normative developmental dataset was used to accurately adjust for effects of age. We normalized volumes of segmented brain regions as well as volumes of each voxel defined by tensor-based morphometry. Results show that the total intracranial volumes, the global gray and white matter volumes are respectively higher and lower in deletion and duplication carriers compared to control subjects at 4.5 years of age. These differences remain stable through childhood, adolescence and adulthood until 23 years of age (range: 0.5 to 1.0 Z-score). Voxel-based results are consistent with previous findings in 16p11.2 copy number variant carriers, including increased volume in the calcarine cortex and insula in deletions, compared to controls, with an inverse effect in duplication carriers (1.0 Z-score). All large effect-size voxel-based differences are present at 4.5 years and seem to remain stable until the age of 23. Our results highlight the stability of a neuroimaging endophenotype over 2 decades during which neurodevelopmental symptoms evolve at a rapid pace.
Disciplines :
Genetics & genetic processes
Author, co-author :
Cardenas-de-la-Parra, Alonso
Martin-Brevet, Sandra
Moreau, Clara
Rodriguez-Herreros, Borja
Fonov, Vladimir S.
Maillard, Anne M.
Zurcher, Nicole R.
Hadjikhani, Nouchine
Beckmann, Jacques S.
Reymond, Alexandre
Draganski, Bogdan
Jacquemont, Sebastien
Collins, D. Louis
More authors (3 more) Less
Other collaborator :
CABERG, Jean-Hubert ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Unité de laboratoire - neurogénétique
DEBRAY, François-Guillaume ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Centre de prise en charge des maladies métaboliques
Language :
English
Title :
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.
Publication date :
2019
Journal title :
NeuroImage
ISSN :
1053-8119
eISSN :
1095-9572
Publisher :
Elsevier, Amsterdam, Netherlands
Volume :
203
Pages :
116155
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
Copyright (c) 2019. Published by Elsevier Inc.
Available on ORBi :
since 24 December 2019

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