Journal article

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

Loyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, Aurelie Pain, Sandra Martin-Brevet, Carina Ferrari, Philippe Conus, Aurelien Mace, Nouchine Hadjikhani, Andres Metspalu, Anu Reigo, Anneli Kolk, Katrin Maennik, Mandy Barker, Bertrand Isidor, Cedric Le Caignec, Cyril Mignot, Laurence Schneider, Laurent Mottron, Boris Keren Show all



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 ..

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Awarded by Swiss National Science Foundation (SNSF) Sinergia Grant

Awarded by National Center of Competence in Research Synapsy Project Grant

Awarded by Special Program University Medicin

Awarded by Simons Foundation Autism Research Initiative (SFARI) Grant

Awarded by SNSF Grant

Awarded by University of Tartu

Awarded by Estonian Research Council

Awarded by Agence Nationale

Funding Acknowledgements

This work was supported by the Leenaards Foundation Prize (SJ, ARey, NH), Swiss National Science Foundation (SNSF) Sinergia Grant No. CRIS FN CRSII33-133044 (ARey, SJ), National Center of Competence in Research Synapsy Project Grant Nos. 320030_135679 and Special Program University Medicin 33CM30_140332/1 (BD), Simons Foundation Autism Research Initiative (SFARI) Grant No. SFARI274424 (ARey), Foundation Parkinson Switzerland (BD), Foundation Synapsis (BD), Human Brain Project, a European Union initiative (BD), SNSF Grant No. PP00P3_144902/2 (SJ), a Canada Research Chair (SJ), Jeanne and Jean Louis Levesque Foundation (SJ), Center of Excellence in Genomics (Estonian Genome Center, the University of Tartu [EGCUT] [AMe, ARei, AK, KM]), University of Tartu Grant No. SP1GVARENG (EGCUT [AMe, ARei, AK, KM]), Estonian Research Council Grant No. IUT20-60 (EGCUT [AMe, ARei, AK, KM]), Swiss Scientific Exchange New Member States Program (KM), and a fellowship from the doctoral school of the Faculty of Biology and Medicine, University of Lausanne (MZ). Laboratory for Research in Neuroimaging is supported by the Roger de Spoelberg and Partridge Foundations. FR received funding from Agence Nationale (contracts ANR-10-LABX-0087 IEC and ANR-10-IDEX-0001-02 PSL). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.