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Cited by 46Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatmentGenetic Associations and Epidemiology

22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis

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Squarcione, Chiaras, Torti, Maria Chiara, Di Fabio, Fabio, Biondi, Massimo·2013·Neuropsychiatric Disease and Treatment
DOI 10.2147/ndt.s52188PMC PMC3862513
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Abstract

The 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) 11.2 band. The 22q11DS is among the most clinically variable syndromes, with more than 180 features related with the deletion, and is associated with an increased risk of psychiatric disorders, accounting for up to 1%-2% of schizophrenia cases. In recent years, several genes located on chromosome 22q11 have been linked to schizophrenia, including those encoding catechol-O-methyltransferase and proline dehydrogenase, and the interaction between these and other candidate genes in the deleted region is an important area of research. It has been suggested that haploinsufficiency of some genes within the 22q11.2 region may contribute to the characteristic psychiatric phenotype and cognitive functioning of schizophrenia. Moreover, an extensive literature on neuroimaging shows reductions of the volumes of both gray and white matter, and these findings suggest that this reduction may be predictive of increased risk of prodromal psychotic symptoms in 22q11DS patients. Experimental and standardized cognitive assessments alongside neuroimaging may be important to identify one or more endophenotypes of schizophrenia, as well as a predictive prodrome that can be preventively treated during childhood and adolescence. In this review, we summarize recent data about the 22q11DS, in particular those addressing the neuropsychiatric and cognitive phenotypes associated with the deletion, underlining the recent advances in the studies about the genetic architecture of the syndrome.

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Authors
Squarcione, C., Torti, M. C., Di Fabio, F., & Biondi, M.
Affiliations
Sapienza University of Rome (IT)
ORCID
Biondi, Massimo
Venue
Neuropsychiatric Disease and Treatment
Publisher
Informa UK Limited
Published
2013-12
Volume
9
Pages
1873
ISSN
1176-6328 (ISSN-L)
DOI
10.2147/ndt.s52188
PMC
PMC3862513
OpenAlex
W1972402677
Cited by
46
References
6
Citations by year
2026: 1 · 2025: 4 · 2024: 3 · 2021: 5 · 2020: 3 · 2019: 1 · 2018: 6 · 2017: 7 · 2016: 6 · 2015: 8 · 2014: 2
FWCI
0.66
Type
journal article
Language
en
Open access
Licence
Locations
  • Neuropsychiatric Disease and Treatment (publishedVersion, cc-by-nc)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • Dove Medical Press (Taylor and Francis Group) (submittedVersion, cc-by-nc)
  • IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
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, neuropsychiatric features, schizophrenia risk, catechol-O-methyltransferase, proline dehydrogenase, haploinsufficiency, gray and white matter volume, prodromal psychosis, endophenotypes, cognitive phenotypes, genetic architecture, chromosome 22q11

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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