A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium
Open accessAbstract
Rare copy number variants contribute significantly to the risk for schizophrenia, with the 22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome (22q11DS) have an estimated 25-fold increased risk for schizophrenia spectrum disorders, compared to individuals in the general population. The International 22q11DS Brain Behavior Consortium is examining this highly informative neurogenetic syndrome phenotypically and genomically. Here we detail the procedures of the effort to characterize the neuropsychiatric and neurobehavioral phenotypes associated with 22q11DS, focusing on schizophrenia and subthreshold expression of psychosis. The genomic approach includes a combination of whole-genome sequencing and genome-wide microarray technologies, allowing the investigation of all possible DNA variation and gene pathways influencing the schizophrenia-relevant phenotypic expression. A phenotypically rich data set provides a psychiatrically well-characterized sample of unprecedented size (n=1616) that informs the neurobehavioral developmental course of 22q11DS. This combined set of phenotypic and genomic data will enable hypothesis testing to elucidate the mechanisms underlying the pathogenesis of schizophrenia spectrum disorders.
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The International Brain Behavior Consortium has started systematically using a set of dimensional psychopathology measures across several genetic disorders, especially high-risk CNVs.
“For instance, the International Brain Behavior Consortium (IBBC) has begun to apply a battery of dimensional measures of psychopathology systematically across multiple genetic disorders (Gur et al., 2017), with a particular focus on CNVs that carry significant risk.”
From Getting to the cores of autism (2019) · cites this paper as Gur et al., 2017
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Self-citation
- Authors
- Gur, R. E., Bassett, A. S., McDonald-McGinn, D. M., Bearden, C. E., Chow, E., Emanuel, B. S., Owen, M., Swillen, A., Van den Bree, M., Vermeesch, J., Vorstman, J. A. S., Warren, S., Lehner, T., Morrow, B., & and The International 22q11.2 Deletion Syndrome Brain Behavior Consortium
- Affiliations
- Children's Hospital of Philadelphia (US)
- Centre for Addiction and Mental Health (CA)
- University of California, Los Angeles (US)
- Cardiff University (GB)
- KU Leuven (BE)
- University Medical Center Utrecht (NL)
- Emory University (US)
- National Institute of Mental Health (US)
- Albert Einstein College of Medicine (US)
- Corresponding author
- Gur, R E
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2017-08-01
- Volume
- 22
- Issue
- 12
- Pages
- 1664-1672
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC5935262
- OpenAlex
- W2726119716
- Cited by
- 93
- References
- 103
- Citations by year
- 2026: 9 · 2025: 8 · 2024: 12 · 2023: 6 · 2022: 11 · 2021: 15 · 2020: 10 · 2019: 11 · 2018: 11
- FWCI
- 5.79
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Molecular Psychiatry (publishedVersion, public-domain)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Lirias (KU Leuven) (submittedVersion)
- Funders
- Wellcome Trust (110222/Z/15/Z)
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (144260, 324730)
- National Institutes of Health (UL1TR000454, UL1TR002378)
- Medical Research Council (MR/L010305/1)
- National Institute of Mental Health (U01MH101723, U01MH101719, U01MH087626, L30 MH111007, U01MH087636, U01MH101724, R01MH085953, R01MH064824, U01MH101720, U01MH101722, R37MH085953)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD079125, P01HD070454)
- 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
- 22q11.2 deletion syndrome, schizophrenia spectrum disorders, copy number variation, neuropsychiatric phenotypes, neurobehavioral phenotype, schizophrenia pathogenesis, whole genome sequencing, developmental course
- MeSH terms
- Scholarly Communication, Adolescent, Adult, Aged, Child, Cooperative Behavior, DiGeorge Syndrome, Female, Humans, Male, Middle Aged, Models, Genetic, Models, Neurological, Phenotype, Schizophrenia, Cohort Studies, Genome, Genetic Predisposition to Disease, Young Adult, DNA Copy Number Variations, Data Mining
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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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