Genetic components of microdeletion syndromes and their role in determining schizophrenia traits

Mol Biol Rep. 2024 Jul 13;51(1):804. doi: 10.1007/s11033-024-09731-y.

Abstract

Schizophrenia is a neuropsychiatric disorder characterized by various symptoms such as hallucinations, delusions, and disordered thinking. The etiology of this disease is unknown; however, it has been linked to many microdeletion syndromes that are likely to contribute to the pathology of schizophrenia. In this review we have comprehensively analyzed the role of various microdeletion syndromes, like 3q29, 15q13.3, and 22q11.2, which are known to be involved with schizophrenia. A variety of factors lead to schizophrenia phenotypes, but copy number variants that disrupt gene regulation and impair brain function and cognition are one of the causes that have been identified. Multiple case studies have shown that loss of one or more genes in the microdeletion regions lead to brain activity defects. In this article, we present a coherent paradigm that connects copy number variations (CNVs) to numerous neurological and behavioral abnormalities associated with schizophrenia. It would be helpful in understanding the different aspects of the microdeletions and how they contribute in the pathophysiology of schizophrenia.

Keywords: 15q13.3; 3q29; Copy number variations; Microdeletion syndrome; Schizophrenia.

Publication types

  • Review

MeSH terms

  • Chromosome Deletion*
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 15 / genetics
  • Chromosomes, Human, Pair 3
  • DNA Copy Number Variations* / genetics
  • Developmental Disabilities
  • Genetic Predisposition to Disease
  • Humans
  • Intellectual Disability / genetics
  • Phenotype
  • Schizophrenia* / genetics
  • Seizures

Supplementary concepts

  • Chromosome 15q13.3 Microdeletion Syndrome
  • Chromosome 3q29 Deletion Syndrome