Copy Number Variations and Schizophrenia

Overview

Journal Mol Neurobiol

Specialties Molecular Biology
Neurology

Date 2022 Dec 29

PMID 36580197

Authors

Kamila Szecowka

Blazej Misiak

Izabela Laczmanska

Dorota Frydecka

Ahmed A Moustafa

Affiliations

Soon will be listed here.

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.

Citing Articles

Late onset psychosis in a case of 15q11.2 BP1-BP2 microdeletion () syndrome: A case report and literature review.

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Copy Number Variations in Neuropsychiatric Disorders.

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