The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
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Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not deciphered. Reciprocal copy number variants at the 16p11.2 BP4-BP5 locus offer a unique opportunity to study the intermediate phenotypes in carriers at high risk for autism spectrum disorder (ASD) or schizophrenia (SZ). We investigated the variation in brain anatomy in 16p11.2 deletion and duplication carriers. Beyond gene dosage effects on global brain metrics, we show that the number of genomic copies negatively correlated to the gray matter volume and white matter tissue properties in cortico-subcortical regions implicated in reward, language and social cognition. Despite the near absence of ASD or SZ diagnoses in our 16p11.2 cohort, the pattern of brain anatomy changes in carriers spatially overlaps with the well-established structural abnormalities in ASD and SZ. Using measures of peripheral mRNA levels, we confirm our genomic copy number findings. This combined molecular, neuroimaging and clinical approach, applied to larger datasets, will help interpret the relative contributions of genes to neuropsychiatric conditions by measuring their effect on local brain anatomy.
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Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD, ID, motor/developmental delay, dysmorphic features, and epilepsy/seizures.
“Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD [8–19], ID [8, 10, 12, 14–16, 19–21], motor/developmental delay [8–10, 12, 13, 15–19, 22], dysmorphic features [8, 12, 16, 17, 22], and epilepsy/seizures [10, 12, 17].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [14]
Bipolar disorder is reported in 16p11.2 duplication carriers.
“Bipolar disorder is also reported in 16p11.2 duplication carriers [9, 14, 24].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [14]
16p11.2 duplications have reduced cortical thickness, reduced hippocampal volume, and enlarged ventricles.
“16p11.2 duplications also have the reduced cortical thickness [14, 23], reduced hippocampal volume [49] and enlarged ventricles [50, 53, 55].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [14]
16p11.2 deletions and duplications are linked to depression and anxiety.
“16p11.2 deletions and duplications are linked to several other psychiatric conditions, including depression [14, 47] and anxiety [12, 14, 18, 19, 23, 34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [14]
MRI studies show reciprocal brain volume changes, with increased gray/white matter in 16p11.2 deletions and decreased gray/white matter in 16p11.2 duplications.
“MRI studies show reciprocal brain volume changes, with increased gray/white matter in 16p11.2 deletions, and decreased gray/white matter in 16p11.2 duplications [14, 23, 49, 50].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [14]
Speech articulation abnormalities, phonological processing disorder, language or communication disorder, speech or language deficits, and speech delay are present at high rates in 16p11.2 deletion carriers.
“Speech articulation abnormalities [36], phonological processing disorder [21, 23], language or communication disorder [14, 21, 23], speech or language deficits [15, 16], and speech delay [17, 33] are present at high rates in deletion carriers.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [14]
Human carriers of 16p11.2 deletions have larger medial fiber tracts.
“coinciding with the increased medial fiber tracts in human deletion carriers [14]”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [14]
The medial fiber tract increase in 16p11.2 hemideletion mice matches the increase seen in human deletion carriers.
“but they show male-specific increases in medial and peristriatal fiber tracts [7], coinciding with the increased medial fiber tracts in human deletion carriers [14]”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [14]
At multiple loci, reciprocal deletions and duplications are linked to opposite brain phenotypes in circuits for social cognition, language, and reward.
“For example, reciprocal deletions of duplications of multiple loci associate with opposing brain phenotypes in neural circuits involved in social cognition, language and reward (Deshpande and Weiss, 2018; Lin et al., 2017; Maillard et al., 2015).”
From Getting to the cores of autism (2019) · cites this paper as Maillard et al., 2015
Different genetic disorders show measurable differences in how phenotypes are expressed.
“At the same time there are measurable differences in phenotypic expression between different genetic disorders, which can serve as windows into distinct molecular subtypes of ASD.”
From Getting to the cores of autism (2019) · cites this paper as Maillard et al., 2015
Macrocephaly is observed in subjects with the 16p11.2 microdeletion, whereas carriers of the duplication show microcephaly.
“Macrocephaly is observed in subjects with the 16p11.2 microdeletion, whereas carriers of the duplication show microcephaly [227, 292, 326, 337].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [227]
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The pleiotropic spectrum of proximal 16p11.2 CNVs
Auwerx, C., Kutalik, Z., & Reymond, A. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.08.015 · Cited by 18 · see citing works
Self-citationCharacterizing Sleep Problems in 16p11.2 Deletion and Duplication
Kamara, D., de Boeck, P. A. L., Lecavalier, L., Neuhaus, E., & Beauchaine, T. P. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-021-05311-2 · Cited by 15 · see citing works
Szelest, M., Stefaniak, M., Ręka, G., Jaszczuk, I., & Lejman, M. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00929-8 · Cited by 15 · see citing works
Kim, U., Jung, Y. M., Oh, S., Bae, J. H., Lee, J., Park, C., Park, J. S., Jun, J. K., & Lee, S. M. (2024) · Journal of Korean Medical Science · doi:10.3346/jkms.2024.39.e70 · Cited by 16 · see citing works
Ma, Y., Chen, C., Wang, Y., Wu, L., He, F. P., Chen, C., Zhang, C., Deng, X., Yang, L., Chen, Y., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12768 · Cited by 16 · see citing works
- Authors
- 16p11.2 European Consortium, Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., Dukart, J., Ferrari, C., Conus, P., Männik, K., Zazhytska, M., Siffredi, V, Maeder, P., Kutalik, Z., Kherif, F., Hadjikhani, N., Beckmann, J. S., Reymond, A., Draganski, B., & Jacquemont, S.
- Affiliations
- Centre Hospitalier Universitaire Vaudois (CH)
- SIB Swiss Institute of Bioinformatics (CH)
- University of Lausanne (CH)
- Athinoula A. Martinos Center for Biomedical Imaging (US)
- Corresponding author
- Draganski, B
- Jacquemont, S
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2014-11-25
- Volume
- 20
- Issue
- 1
- Pages
- 140-147
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC4320286
- OpenAlex
- W2109214922
- Cited by
- 217
- References
- 62
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 21 · 2023: 10 · 2022: 12 · 2021: 20 · 2020: 15 · 2019: 16 · 2018: 56 · 2017: 20 · 2016: 18 · 2015: 19
- FWCI
- 12.45
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Psychiatry (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- SERVAL (Université de Lausanne) (publishedVersion, cc-by)
- IRIS (submittedVersion, cc-by)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by-nc-nd)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, cc-by-nc-nd)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Max Planck Digital Library (submittedVersion, other-oa)
- 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)
- SERVAL (Université de Lausanne) (submittedVersion)
- Funders
- National Science Foundation (FP7/2007-2013)
- Simons Foundation (SFARI274424)
- Novartis Foundation
- Simons Foundation Autism Research Initiative (SFARI274424)
- European Commission (604102, 2007–2013, FP7 2007-2013, FP7/2007)
- Deutsche Forschungsgemeinschaft (FP7/2007–2013)
- École Polytechnique Fédérale de Lausanne
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (FP7/2007-2013, 33CM30_140332/1, SPUM 33CM30_140332/1, 133044, 144902, 135679, 320030)
- Novartis Stiftung für Medizinisch-Biologische Forschung
- Fondation Leenaards
- Hôpitaux Universitaires de Genève
- Université de Genève
- Université de Lausanne
- Centre d'Imagerie BioMédicale
- Centre Hospitalier Universitaire Vaudois
- 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 › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- copy number variation, autism spectrum disorder, schizophrenia, obesity, brain gray matter volume, gene dosage effect, endophenotypes, neuropsychiatric disorders
- MeSH terms
- Adolescent, Adult, Anthropometry, Autistic Disorder, Brain, Brain Mapping, Child, Chromosomes, Human, Pair 16, Female, Humans, Male, Middle Aged, Obesity, Phenotype, Psychiatric Status Rating Scales, Schizophrenia, Body Mass Index, Gene Dosage, Intramolecular Transferases, Arabidopsis Proteins, Young Adult, Genetic Association Studies, DNA Copy Number Variations
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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