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Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human
Open accessAbstract
Human genetic studies are rapidly identifying variants that increase risk for neurodevelopmental disorders. However, it remains unclear how specific mutations impact brain function and contribute to neuropsychiatric risk. Chromosome 16p11.2 deletion is one of the most common copy number variations in autism and related neurodevelopmental disorders. Using resting state functional MRI data from the Simons Variation in Individuals Project (VIP) database, we show that 16p11.2 deletion carriers exhibit impaired prefrontal connectivity, resulting in weaker long-range functional coupling with temporal-parietal regions. These functional changes are associated with socio-cognitive impairments. We also document that a mouse with the same genetic deficiency exhibits similarly diminished prefrontal connectivity, together with thalamo-prefrontal miswiring and reduced long-range functional synchronization. These results reveal a mechanistic link between specific genetic risk for neurodevelopmental disorders and long-range functional coupling, and suggest that deletion in 16p11.2 may lead to impaired socio-cognitive function via dysregulation of prefrontal connectivity.
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“Both humans and mice carrying 16p11.2 deletions display reduced prefrontal cortical connectivity [100]”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [100]
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“further suggesting a role for PFC disruption in 16p11.2 CNVs.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [100]
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Metadata
- Authors
- Bertero, A., Liska, A., Pagani, M., Parolisi, R., Masferrer, M. E., Gritti, M., Pedrazzoli, M., Galbusera, A., Sarica, A., Cerasa, A., Buffelli, M., Tonini, R., Buffo, A., Gross, C., Pasqualetti, M., & Gozzi, A.
- Affiliations
- University of Pisa (IT)
- Italian Institute of Technology (IT)
- Neuroscience Institute Cavalieri Ottolenghi (IT)
- European Molecular Biology Laboratory (IT)
- National Research Council (IT)
- Istituto S.Anna Crotone (IT)
- University of Verona (IT)
- Corresponding author
- Gozzi, Alessandro
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2018-05-02
- Volume
- 141
- Issue
- 7
- Pages
- 2055-2065
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2801166051
- Cited by
- 120
- References
- 82
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 13 · 2023: 11 · 2022: 17 · 2021: 15 · 2020: 19 · 2019: 16 · 2018: 6
- FWCI
- 8.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion, other-oa)
- Funders
- Simons Foundation (SFARI 314688, 400101)
- Brain and Behavior Foundation (2017 NARSAD)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Functional Brain Connectivity Studies
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- 16p11.2 microdeletion, autism spectrum disorder, copy number variation, prefrontal cortex, long-range functional connectivity, resting-state fMRI, mouse model, neurodevelopmental disorders, genetic risk
- MeSH terms
- Adolescent, Animals, Autistic Disorder, Child, Chromosome Deletion, Chromosomes, Human, Pair 16, Cognition, Disease Models, Animal, Female, Humans, Magnetic Resonance Imaging, Male, Membrane Potentials, Intellectual Disability, Nerve Net, Temporal Lobe, Prefrontal Cortex, Mice, Knockout, Chromosome Disorders, Mice, DNA Copy Number Variations, Cognitive Dysfunction, Neurodevelopmental Disorders
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