Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Apr;60(4):1854-1864.
doi: 10.1007/s12035-022-03185-8. Epub 2022 Dec 29.

Copy Number Variations and Schizophrenia

Kamila Szecówka  1 , Błażej Misiak  2 , Izabela Łaczmańska  3 , Dorota Frydecka  2 , Ahmed A Moustafa  4   5
Affiliations
Review

Copy Number Variations and Schizophrenia

Kamila Szecówka et al. Mol Neurobiol. 2023 Apr.

Abstract

Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding its aetiology would enable the improvement of its therapy and the development of new methods of treatment. A multitude of studies in this field focus on genetic variants, such as copy number variations (CNVs) or single-nucleotide variants (SNVs). Certain genetic disorders caused by CNVs including 22q11.2 microdeletion syndrome, Burnside-Butler syndrome (15q11.2 BP1-BP2 microdeletion) or 1q21.1 microduplication/microdeletion syndrome are associated with a higher risk of developing schizophrenia. In this article, we provide a unifying framework linking these CNVs and their associated genetic disorders with schizophrenia and its various neural and behavioural abnormalities.

Keywords: Copy number variations (CNVs); Genetics; Neural studies; Schizophrenia.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Simplified overview of the phenotype and specific genes associated with CNVs located at 22q11.2, 15q11.2 and 1q21.1. p. 12
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Saha S, Chant D, Welham J, McGrath J (2005) A systematic review of the prevalence of schizophrenia. PLoS Med 2(5):e141. 10.1371/journal.pmed.0020141 - PMC - PubMed
    1. Jaeschke K, Hanna F, Ali S et al (2021) Global estimates of service coverage for severe mental disorders: findings from the WHO Mental Health Atlas 2017. Glob Ment Heal (Cambridge, England) 8. 10.1017/GMH.2021.19 - PMC - PubMed
    1. McGrath J, Saha S, Chant D, Welham J. Schizophrenia: a concise overview of incidence, prevalence, and mortality. Epidemiol Rev. 2008;30:67–76. doi: 10.1093/EPIREV/MXN001. - DOI - PubMed
    1. Carpenter WT, Heinrichs DW, Wagman AMI (1988) Deficit and nondeficit forms of schizophrenia: the concept. Am J Psychiatry. 145(5):578–583. 10.1176/ajp.145.5.578 - PubMed
    1. Moustafa AA (2021) Cognitive and behavioral dysfunction in schizophrenia. Academic Press, London

Supplementary concepts