22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia
Open accessAbstract
Recent studies are beginning to paint a clear and consistent picture of the impairments in psychological and cognitive competencies that are associated with microdeletions in chromosome 22q11.2. These studies have highlighted a strong link between this genetic lesion and schizophrenia. Parallel studies in humans and animal models are starting to uncover the complex genetic and neural substrates altered by the microdeletion. In addition to offering a deeper understanding of the effects of this genetic lesion, these findings may guide analysis of other copy-number variants associated with cognitive dysfunction and psychiatric disorders.
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Human 22q carriers have cognitive deficits.
“Human 22q carriers have cognitive deficits 75 ,”
From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [75]
Rodent models of 22q11DS have provided important insights, including descriptions of circuit dysfunction.
“Rodent models of 22q11DS have provided important insights3,9,10, including describing circuit dysfunction11–13.”
From Neuronal defects in a human cellular model of 22q11.2 deletion syndrome (2020) · cites this paper as [10]
Previous models for 22q11DS have provided pathophysiological clues, but effective therapeutics for mental illness in 22q11DS are still far from developed.
“Previous models for this disease have provided pathophysiological clues9,10,54, but we are still far from developing effective therapeutics for mental illness in 22q11DS.”
From Neuronal defects in a human cellular model of 22q11.2 deletion syndrome (2020) · cites this paper as [10]
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- Authors
- Karayiorgou, M., Simon, T. J., & Gogos, J. A.
- Affiliations
- Columbia University Irving Medical Center (US)
- University of California, Davis (US)
- Corresponding author
- Karayiorgou, Maria
- Venue
- Nature Reviews Neuroscience
- Published
- 2010-06
- Volume
- 11
- Issue
- 6
- Pages
- 402-416
- ISSN
- 1471-003X (ISSN-L)
- 1471-0048
- PMC
- PMC2977984
- OpenAlex
- W2006473457
- Cited by
- 474
- References
- 15
- Citations by year
- 2026: 6 · 2025: 18 · 2024: 13 · 2023: 23 · 2022: 27 · 2021: 18 · 2020: 24 · 2019: 32 · 2018: 30 · 2017: 43 · 2016: 36 · 2015: 31 · 2014: 28 · 2013: 45 · 2012: 43
- FWCI
- 4.86
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature reviews. Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (R01MH067068)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD042974)
- 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 › Genetics and Neurodevelopmental Disorders
- Keywords
- 22q11.2 microdeletion, chromosome 22q11.2, schizophrenia, copy number variation, attention deficits, cognitive impairment, brain dysfunction, animal models, mental illness
- MeSH terms
- Animals, Brain Diseases, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 22, Humans, Schizophrenia
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