Copy Number Variations and Schizophrenia

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.

Automated summary

Schizophrenia is a neurodevelopmental disorder influenced by genetic and environmental factors. Understanding the genetic liability contributing to schizophrenia could lead to improved therapy and new treatment methods. Research focuses on genetic variants, such as copy number variations (CNVs) or single-nucleotide variants (SNVs). Certain CNVs, such as those associated with 22q11.2 microdeletion syndrome or 1q21.1 microduplication/microdeletion syndrome, increase the risk of developing schizophrenia. This article provides a unifying framework linking these CNVs and associated genetic disorders to schizophrenia and its various neural and behavioral abnormalities.