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

Cardenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., et al. (2019). Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations. NeuroImage, 203: 116155. doi:10.1016/j.neuroimage.2019.116155.

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Cardenas-de-la-Parra, Alonso1, Author
Martin-Brevet, Sandra1, Author
Moreau, Clara1, Author
Rodriguez-Herreros, Borja1, Author
Fonov, Vladimir S.1, Author
Maillard, Anne M.1, Author
Zürcher, Nicole R.1, Author
16p11.2 European Consortium, Author              
Hadjikhani, Nouchine1, Author
Beckmann, Jacques S.1, Author
Reymond, Alexandre1, Author
Draganski, Bogdan1, 2, Author           
Jacquemont, Sebastien1, Author
Collins, D. Louis1, Author
1External Organizations, ou_persistent22              
2Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              


Free keywords: 16p11.2 Copy number variants; Neurodevelopmental disorders; Genetics; Imaging; Brain development; Normative growth trajectories
 Abstract: 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.


Language(s): eng - English
 Dates: 2019-08-232019-01-112019-09-022019-09-052019-12
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1016/j.neuroimage.2019.116155
PMID: 31494251
Other: Epub ahead of print
 Degree: -



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Project name : NCCR Synapsy
Grant ID : 32003B_159780 ; 33CS30-148401
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Funding organization : Swiss National Science Foundation
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Funding organization : Leenaards Foundation
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Funding organization : Roger De Spoelberch and Partridge Foundations
Project name : This are just the project information about the MPI for Human Cognitive and Brain Sciences. More information available in the paper
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Source 1

Title: NeuroImage
Source Genre: Journal
Publ. Info: Orlando, FL : Academic Press
Pages: - Volume / Issue: 203 Sequence Number: 116155 Start / End Page: - Identifier: ISSN: 1053-8119
CoNE: https://pure.mpg.de/cone/journals/resource/954922650166