Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation
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CONTEXT: Results of comparative genomic hybridization studies have suggested that rare copy number variations (CNVs) at numerous loci are involved in the cause of mental retardation, autism spectrum disorders, and schizophrenia. OBJECTIVES: To provide an estimate of the collective frequency of a set of recurrent or overlapping CNVs in 3 different groups of cases compared with healthy control subjects and to assess whether each CNV is present in more than 1 clinical category. DESIGN: Case-control study. SETTING: Academic research. PARTICIPANTS: We investigated 28 candidate loci previously identified by comparative genomic hybridization studies for gene dosage alteration in 247 cases with mental retardation, in 260 cases with autism spectrum disorders, in 236 cases with schizophrenia or schizoaffective disorder, and in 236 controls. MAIN OUTCOME MEASURES: Collective and individual frequencies of the analyzed CNVs in cases compared with controls. RESULTS: Recurrent or overlapping CNVs were found in cases at 39.3% of the selected loci. The collective frequency of CNVs at these loci is significantly increased in cases with autism, in cases with schizophrenia, and in cases with mental retardation compared with controls (P < .001, P = .01, and P = .001, respectively, Fisher exact test). Individual significance (P = .02 without correction for multiple testing) was reached for the association between autism and a 350-kilobase deletion located at 22q11 and spanning the PRODH and DGCR6 genes. CONCLUSIONS: Weakly to moderately recurrent CNVs (transmitted or occurring de novo) seem to be causative or contributory factors for these diseases. Most of these CNVs (which contain genes involved in neurotransmission or in synapse formation and maintenance) are present in the 3 pathologic conditions (schizophrenia, autism, and mental retardation), supporting the existence of shared biologic pathways in these neurodevelopmental disorders.
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DLG3 and DLGAP2 have been implicated in mental retardation and autism.
“whereas other members of the family (DLG3 and DLGAP2) have been implicated in mental retardation35 and autism.30, 36”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [36]
Deleterious mutations in synaptic proteins are linked to ID and ASD, and many animal models show deficits in synapse structure and/or function.
“Deleterious mutations in synaptic proteins are linked to these disorders and many animal models display deficits related to synapse structure and/or function”
From Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses (2012) · cites this paper as Guilmatre et al., 2009
Recent genetic data have shown overlap between risk genes of schizophrenia and ASDs.
“recent genetic data that have shown overlap between risk genes of both disorders”
From Neuronal Dynamics and Neuropsychiatric Disorders: Toward a Translational Paradigm for Dysfunctional Large-Scale Networks (2012) · cites this paper as Guilmatre et al., 2009
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Genetic basis of autism: is there a way forward?
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- Authors
- Guilmatre, A., Dubourg, C., Mosca, A.-L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., Layet, V., Rosier, A., Briault, S., Bonnet-Brilhault, F., Laumonnier, F., Odent, S., Le Vacon, G., Joly-Helas, G., David, V., Bendavid, C., Pinoit, J.-M., Henry, C., Impallomeni, C., Germano, E., Tortorella, G., Di Rosa, G., Barthelemy, C., Andres, C., Faivre, L., Frébourg, T., Saugier Veber, P., & Campion, D.
- Affiliations
- Inserm (FR)
- Institut de génétique et de développement de Rennes (FR)
- Imaging, Brain, and Neuropsychiatry (FR)
- CHU Dijon Bourgogne (FR)
- ORCID
- Venue
- Archives of General Psychiatry
- Publisher
- American Medical Association (AMA)
- Published
- 2009-09-01
- Volume
- 66
- Issue
- 9
- Pages
- 947
- ISSN
- 0003-990X (ISSN-L)
- PMC
- PMC2958844
- OpenAlex
- W2103189755
- Cited by
- 429
- References
- 57
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 12 · 2023: 11 · 2022: 10 · 2021: 11 · 2020: 14 · 2019: 16 · 2018: 15 · 2017: 28 · 2016: 17 · 2015: 39 · 2014: 39 · 2013: 51 · 2012: 53
- FWCI
- 29.26
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Archives of General Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- 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
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Keywords
- copy number variation, schizophrenia, autism spectrum disorder, intellectual disability, 22q11.2 deletion, proline dehydrogenase, synaptic genes, neurodevelopmental disorders, shared biological pathways
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Chromosome Mapping, Female, Gene Frequency, Genotype, Humans, Male, Intellectual Disability, Proline, Psychotic Disorders, Schizophrenia, Case-Control Studies, In Situ Hybridization, Fluorescence, Gene Dosage, Oligonucleotide Array Sequence Analysis, Comparative Genomic Hybridization, Neurogenesis
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.
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