The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition
Open accessAbstract
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.
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De novo and inherited 16p11.2 deletion carriers do not perform differently on several cognitive tasks.
“However, de novo and inherited deletion carriers do not perform differently on several cognitive tasks [35].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [35]
Several supporting studies also reported lower FSIQ scores in 16p11.2 deletion and duplication patients than in intrafamilial controls.
“Several supporting studies also reported lower FSIQ scores in 16p11.2 deletion [12, 35] and duplication [19, 35] patients than intrafamilial controls.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [35]
Studies of cognition and language in 16p11.2 reciprocal deletion and duplication carriers report opposite effects on particular language skills: deletion carriers perform worse and duplication carriers perform better than IQ-matched controls.
“Cognitive and language studies in carriers of the reciprocal deletions and duplication of 16p11.2 have reported mirror effects on specific linguistic skills, deletion carriers having reduced performance and and duplication carriers having greater performance than IQ-matched controls (Hippolyte et al., 2016).”
From Getting to the cores of autism (2019) · cites this paper as Hippolyte et al., 2016
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Self-citationLanguage characterization in 16p11.2 deletion and duplication syndromes
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Self-citationGenetic copy number variants, cognition and psychosis: a meta-analysis and a family study
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What aDNA can (and cannot) tell us about the emergence of language and speech
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Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes
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Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications
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The pleiotropic spectrum of proximal 16p11.2 CNVs
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Self-citationCharacterizing Sleep Problems in 16p11.2 Deletion and Duplication
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Chaves, T. F., Ocampos, M., Barbato, I. T., Pinto, L. L. D. C., de Luca, G. R., Filho, J. H. B., Bernardi, P., Muniz, Y. C. N., & Maris, A. F. (2024) · Scientific Reports · doi:10.1038/s41598-024-54385-2 · Cited by 15 · see citing works
Genetic analysis of very obese children with autism spectrum disorder
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The Genetic Control of Stoichiometry Underlying Autism
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Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD
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The Association Between Genetic Variation in FOXP2 and Sensorimotor Control of Speech Production
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Schizophrenia: a Narrative Review of Etiological and Diagnostic Issues
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Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome
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- Authors
- Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., Conus, P., Macé, A., Hadjikhani, N., Metspalu, A., Reigo, A., Kolk, A., Männik, K., Barker, M., Isidor, B., Le Caignec, C., Mignot, C., Schneider, L., Mottron, L., Keren, B., David, A., Doco-Fenzy, M., Gérard, M., Bernier, R., Goin-Kochel, R. P., Hanson, E., Green Snyder, L., Ramus, F., Beckmann, J. S., Draganski, B., Reymond, A., & Jacquemont, S.
- Affiliations
- University of Lausanne (CH)
- SIB Swiss Institute of Bioinformatics (CH)
- École Polytechnique Fédérale de Lausanne (CH)
- Tartu University Hospital (EE)
- Centre Hospitalier Universitaire de Nantes (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Hospitalier Universitaire Vaudois (CH)
- Hôpital Rivière-des-Prairies (CA)
- University of Washington (US)
- Boston Children's Hospital (US)
- Centre National de la Recherche Scientifique (FR)
- Max Planck Institute for Human Cognitive and Brain Sciences (DE)
- Corresponding author
- Jacquemont, Sébastien
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2016-07
- Volume
- 80
- Issue
- 2
- Pages
- 129-139
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2175782740
- Cited by
- 84
- References
- 54
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 7 · 2023: 3 · 2022: 7 · 2021: 13 · 2020: 13 · 2019: 7 · 2018: 12 · 2017: 11 · 2016: 4
- FWCI
- 6.19
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Biological Psychiatry (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- IRIS (submittedVersion)
- Max Planck Digital Library (submittedVersion)
- Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion)
- Infoscience (Ecole Polytechnique Fédérale de Lausanne) (submittedVersion, cc-by-nc-nd)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion, other-oa)
- Funders
- Leenaards Foundation Prize (SJ, AR and NH), a Swiss National Science Foundation (SNSF) Sinergia (CRIS FN CRSII33-133044)
- Simons Foundation Autism Research Initiative (SFARI274424)
- Swiss National Science Foundation (320030_135679, SPUM 33CM30_140332/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- copy number variation, 16p11.2 deletion, 16p11.2 duplication, language, phonology, verbal memory, inhibition, IQ, autism spectrum disorder, schizophrenia, working memory, visuospatial memory, neuroanatomy
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Heterozygote, Humans, Intelligence, Language, Male, Memory, Intellectual Disability, Middle Aged, Motor Skills, Pedigree, Chromosome Disorders, Young Adult, Executive Function, DNA Copy Number Variations, Chromosome Duplication, Cognitive Dysfunction
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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