Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.

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Etat: Public
Version: de l'auteur⸱e
Licence: Non spécifiée
ID Serval
serval:BIB_5A4DF428C3C1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.
Périodique
NeuroImage
Auteur⸱e⸱s
Cárdenas-de-la-Parra A., Martin-Brevet S., Moreau C., Rodriguez-Herreros B., Fonov V.S., Maillard A.M., Zürcher N.R., Hadjikhani N., Beckmann J.S., Reymond A., Draganski B., Jacquemont S., Collins D.L.
Collaborateur⸱rice⸱s
16p11.2 European Consortium
Contributeur⸱rice⸱s
Marie-Claude A., Joris A., Benoît A., Geneviève B., Frédérique S.B., Marco B., Dominique B., Sonia B., Odile B., Alfredo B., Tiffany B., Jean-Hubert C., Dominique C., Vanessa C., Marie-Pierre C., Albert D., François-Guillaume D., Marie-Ange D., Martine D.F., Ulrike D.H., Patrick E., Christina F., Laurence F., Francesca F., David G., Marion G., Daniela G., Agnès G., Olivier G., Delphine H., Bertrand I., Aurélia J., Sylvie J., Hubert J., Boris K., Didier L., Sébastien L., Cédric L.C., Marie-Pierre L., James L., Michèle M.D., Sandra M., Cyril M., Chantal M., Florence P., Kristina P.S., Lucile P., Ghislaine P., Fabienne P., Caroline R.T., Massimiliano R., Damien S., Britta S.K., Caroline S.B., Marianne T., Mieke V.H., Lionel V.M.
ISSN
1095-9572 (Electronic)
ISSN-L
1053-8119
Statut éditorial
Publié
Date de publication
12/2019
Peer-reviewed
Oui
Volume
203
Pages
116155
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
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.
Mots-clé
16p11.2 Copy number variants, Brain development, Genetics, Imaging, Neurodevelopmental disorders, Normative growth trajectories
Pubmed
Web of science
Création de la notice
17/09/2019 17:05
Dernière modification de la notice
20/01/2021 6:26
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