Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
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Recent studies have established an important role for rare genomic deletions and duplications in the etiology of schizophrenia. This research suggests that the genetic architecture of neuropsychiatric disorders includes a constellation of rare mutations in many different genes. Mutations that confer substantial risk for schizophrenia have been identified at several loci, most of which have also been implicated in other neurodevelopmental disorders, including autism. Genetic heterogeneity is a characteristic of schizophrenia; conversely, phenotypic heterogeneity is a characteristic of all schizophrenia-associated mutations. Both kinds of heterogeneity probably reflect the complexity of neurodevelopment. Research strategies must account for both genetic and clinical heterogeneity to identify the genes and pathways crucial for the development of neuropsychiatric disorders.
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CNVs with very large effect sizes for ASD can still present with variable psychiatric traits.
“Even CNVs with large effect sizes (OR > 30) for ASD present with variable psychiatric traits4, and risk is attributable to a combination of rare and common variation5,6.”
From A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex (2022) · cites this paper as [4]
CNV studies have established a significant role for rare (<1% frequency) and large (>100 kb) CNVs in schizophrenia risk.
“CNV studies have now established a significant role for rare (<1% in frequency) and large (>100kb) CNVs in risk for schizophrenia (Sebat et al., 2009).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Sebat et al., 2009
Several individual CNV loci have been strongly implicated as risk factors for schizophrenia.
“several individual CNV loci have been strongly implicated as risk factors for schizophrenia with high degrees of statistical confidence. These include deletions at 1q21.1, NRXN1, 3q29, 15q11.2, 15q13.3, 22q11.2 and duplications at VIPR2, 16p11.2, 16p13.1 and 15q11-q13.2, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [13]
Many CNVs robustly implicated in schizophrenia are also implicated in neurodevelopmental disorders in which cognitive impairment is common.
“Many of the CNVs robustly implicated in schizophrenia are also implicated in neurodevelopmental disorders in which cognitive impairment is common.39, 40, 41”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [40]
Many forms of structural variation are thought to exert or manifest their effects throughout the genome and not necessarily as a group of variants in a singular region of the genome.
“However, many of these forms of variation are thought to exert or manifest their effects throughout the genome and not necessarily as a group of variants in a singular region of the genome.”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [37]
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- Authors
- Sebat, J., Levy, D. L., & McCarthy, S. E.
- Affiliations
- Cold Spring Harbor Laboratory (US)
- McLean Hospital (US)
- Corresponding author
- Sebat, Jonathan
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2009-12
- Volume
- 25
- Issue
- 12
- Pages
- 528-535
- ISSN
- 0168-9525 (ISSN-L)
- PMC
- PMC3351381
- OpenAlex
- W1984092261
- Cited by
- 260
- References
- 123
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 1 · 2023: 4 · 2022: 3 · 2021: 9 · 2020: 10 · 2019: 9 · 2018: 5 · 2017: 12 · 2016: 11 · 2015: 22 · 2014: 24 · 2013: 25 · 2012: 46
- FWCI
- 3.54
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Funders
- National Institutes of Health (5r01mh071523-05)
- U.S. Public Health Service (HF004222)
- National Institute of Mental Health (MH 31340, MH076431, MH071523, R01-MH071523, R01MH031340, R01MH076431)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- schizophrenia, structural variants, genomic deletions, genomic duplication, rare mutations, genetic heterogeneity, phenotypic heterogeneity, autism spectrum disorder, neurodevelopmental disorders, neuropsychiatric disorders, genetic architecture
- MeSH terms
- Animals, Humans, Mutation, Schizophrenia, Genetic Predisposition to Disease, DNA Copy Number Variations
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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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