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  The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition

Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., et al. (2016). The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition. Biological Psychiatry, 80(2), 129-139. doi:10.1016/j.biopsych.2015.10.021.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002B-2748-3 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-781D-7
Genre: Journal Article


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Hippolyte, Loyse1, Author
Maillard, Anne M.1, Author
Rodriguez-Herreros, Borja1, 2, Author
Pain, Aurélie1, Author
Martin-Brevet, Sandra1, 2, Author
Ferrari, Carina3, Author
Conus, Philippe3, Author
Macé, Aurélien4, 5, Author
Hadjikhani, Nouchine6, Author
Metspalu, Andres7, Author
Reigo, Anu7, Author
Kolk, Anneli8, Author
Männik, Katrin7, 9, Author
Barker, Mandy10, Author
Isidor, Bertrand11, Author
Le Caignec, Cédric11, 12, Author
Mignot, Cyril13, 14, Author
Schneider, Laurence15, Author
Mottron, Laurent16, Author
Keren, Boris13, Author
David, Albert11, AuthorDoco-Fenzy, Martine17, AuthorGérard, Marion13, 18, AuthorBernier, Raphael19, AuthorGoin-Kochel, Robin P.20, AuthorHanson, Ellen21, AuthorGreen Snyder, LeeAnne22, Author16p11.2 European Consortium, Author              Simons Variation in Individuals Project Consortium, Author              Ramus, Frank23, AuthorBeckmann, Jaques S.1, 5, AuthorDraganski, Bogdan2, 24, Author              Reymond, Alexandre9, AuthorJacquemont, Sébastien1, Author more..
1Service of Medical Genetics, Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
2Laboratoire de Recherche en Neuroimagerie (LREN), Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
3Department of Psychiatry, University of Lausanne, Switzerland, ou_persistent22              
4Department of Medical Genetics, University of Lausanne, Switzerland, ou_persistent22              
5Swiss Institute of Bioinformatics, University of Lausanne, Switzerland, ou_persistent22              
6Brain Mind Institute, Swiss Federal Institute of Technology, Lausanne, Switzerland, ou_persistent22              
7Department of Genetics, Tartu University Hospital, Estonia, ou_persistent22              
8Department of Neurology and Neurorehabilitation, Tartu University Hospital, Estonia, ou_persistent22              
9Center for Integrative Genomics, University of Lausanne, Switzerland, ou_persistent22              
10Department of Child Psychiatry, University of Lausanne, Switzerland, ou_persistent22              
11Service de Génétique Médicale, Centre hospitalier universitaire (CHU) de Nantes, France, ou_persistent22              
12Institut national de la santé et de la recherche médicale, Nantes, France, ou_persistent22              
13Unité fonctionnelle de génétique clinique, Groupe Hospitalier Pitié Salpêtrière, Assistance Publique - Hôpitaux de Paris, France, ou_persistent22              
14Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Université Pierre et Marie Curie-Paris, France, ou_persistent22              
15Service of Neuropsychology and Neurorehabilitation, Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
16Department of Psychiatry, University of Montréal, QC, Canada, ou_persistent22              
17Service de Génétique, Centre hospitalier universitaire (CHU) de Reims, France, ou_persistent22              
18Département de Génétique, Université Paris Diderot, France, ou_persistent22              
19Department of Psychiatry and Behavioral Science, University of Washington, Seattle, WA, USA, ou_persistent22              
20Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA, ou_persistent22              
21Department of Psychiatry, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA, ou_persistent22              
22Clinical Research Associates, New York, NY, USA, ou_persistent22              
23Department d'etudes cognitives, École normale supérieure, Paris, France, ou_persistent22              
24Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              


Free keywords: 16p11.2; ASD; Copy number variation; Inhibition; Language; Memory
 Abstract: Background Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of these two CNVs have not yet been reported. Methods This study investigates the relationship between the number of genomic copies at the 16p11.2 locus and cognitive domains assessed in 62 deletion carriers, 44 duplication carriers, and 71 intrafamilial control subjects. Results IQ is decreased in deletion and duplication carriers, but we demonstrate contrasting cognitive profiles in these reciprocal CNVs. Deletion carriers present with severe impairments of phonology and of inhibition skills beyond what is expected for their IQ level. In contrast, for verbal memory and phonology, the data may suggest that duplication carriers outperform intrafamilial control subjects with the same IQ level. This finding is reminiscent of special isolated skills as well as contrasting language performance observed in autism spectrum disorder. Some domains, such as visuospatial and working memory, are unaffected by the 16p11.2 locus beyond the effect of decreased IQ. Neuroimaging analyses reveal that measures of inhibition covary with neuroanatomic structures previously identified as sensitive to 16p11.2 CNVs. Conclusions The simultaneous study of reciprocal CNVs suggests that the 16p11.2 genomic locus modulates specific cognitive skills according to the number of genomic copies. Further research is warranted to replicate these findings and elucidate the molecular mechanisms modulating these cognitive performances.


Language(s): eng - English
 Dates: 2015-09-302015-04-072015-10-142015-11-102016-07-15
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1016/j.biopsych.2015.10.021
PMID: 26742926
Other: Epub 2015
 Degree: -



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Source 1

Title: Biological Psychiatry
  Other : Biol. Psychiatry
Source Genre: Journal
Publ. Info: New York : Elsevier
Pages: - Volume / Issue: 80 (2) Sequence Number: - Start / End Page: 129 - 139 Identifier: ISSN: 0006-3223
CoNE: https://pure.mpg.de/cone/journals/resource/954925384111