{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:25:53Z","timestamp":1787498753397,"version":"build-2736575974"},"reference-count":234,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T00:00:00Z","timestamp":1782000000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/W028395\/1"],"award-info":[{"award-number":["MR\/W028395\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"award":["MR\/W028395\/1"],"award-info":[{"award-number":["MR\/W028395\/1"]}],"id":[{"id":"https:\/\/ror.org\/03x94j517","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/100032469","name":"Hodge Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100032469","id-type":"DOI","asserted-by":"crossref"}]},{"id":[{"id":"https:\/\/ror.org\/03kk7td41","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Copy number variants (CNVs) are genomic rearrangements that carry a substantial risk for neurodevelopmental and neuropsychiatric disorders. Among these, recurrent deletions and duplications at the 16p11.2 locus are robustly associated with autism spectrum disorders, schizophrenia, epilepsy, and related conditions, yet also display marked variability in penetrance and phenotypic expression. Accumulating evidence indicates that 16p11.2 gene dosage influences multiple stages of brain development, from early progenitor dynamics and neuronal migration to synaptic formation, refinement, and plasticity. However, how disruptions across these processes are integrated over time, and how they relate to the observed variability and incomplete penetrance, remains poorly understood. In this review, we summarize the current evidence on the impact of 16p11.2 CNVs on brain development, focusing on cellular and circuit-level processes that shape neural connectivity. We discuss how gene dosage imbalance influences early developmental trajectories, synaptic formation and pruning, interneuron maturation, and activity-dependent plasticity, and consider how these processes interact across developmental stages. We suggest a conceptual framework wherein 16p11.2 CNVs do not impose fixed pathogenic outcomes, but rather they contribute towards developmental constraints that shape the timing and stability of neural circuit development. Consequently, these constraints increase vulnerability to neurodevelopmental and psychiatric outcomes in a context-dependent manner.<\/jats:p>","DOI":"10.3390\/genes17060716","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T08:14:12Z","timestamp":1782375252000},"page":"716","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Synaptic and Circuit Mechanisms Shaping Neurodevelopmental and Psychiatric Outcomes Associated with 16p11.2 Copy Number Variation"],"prefix":"10.3390","volume":"17","author":[{"given":"Al\u017ebeta","family":"N\u00e1me\u0161n\u00e1","sequence":"first","affiliation":[{"name":"Neuroscience and Mental Health Innovation Institute, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"School of Psychology and Neuroscience, University of Bristol, Bristol BS8 1TD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3806-3018","authenticated-orcid":false,"given":"Jasmine","family":"Pickford","sequence":"additional","affiliation":[{"name":"School of Psychology and Neuroscience, University of Bristol, Bristol BS8 1TD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Hall","sequence":"additional","affiliation":[{"name":"Neuroscience and Mental Health Innovation Institute, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"Department of Psychiatry, Medical Sciences Division, University of Oxford, Oxford OX3 7JX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4426-3254","authenticated-orcid":false,"given":"Marianne","family":"van den Bree","sequence":"additional","affiliation":[{"name":"Neuroscience and Mental Health Innovation Institute, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff CF24 4AG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke","family":"Tait","sequence":"additional","affiliation":[{"name":"Cardiff University Brain Research Imaging Centre, School of Psychology, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"School of Mathematics, Cardiff University, Cardiff CF24 4AG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence S.","family":"Wilkinson","sequence":"additional","affiliation":[{"name":"Neuroscience and Mental Health Innovation Institute, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK"},{"name":"School of Psychology, Cardiff University, Cardiff CF24 4AG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5396-3108","authenticated-orcid":false,"given":"Matt W.","family":"Jones","sequence":"additional","affiliation":[{"name":"School of Psychology and Neuroscience, University of Bristol, Bristol BS8 1TD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Cainelli, E., and Bisiacchi, P. 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