Related Experiment Video
Updated: Sep 11, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia
Xinpeng Guo1,2,3, Junrong Guo1,3, Xijing Liu1,3
1Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Abstract:
Schizophrenia is a complex neuropsychiatric disorder closely associated with genetic factors. Copy number variations (CNVs) play a key role in the genetic etiology of schizophrenia, with the distal 1q21.1 microdeletion identified as a rare CNV that serves as a significant genetic risk factor for the disorder. This microdeletion is found in 0.2%-0.6% of individuals with schizophrenia and is associated with an eightfold increased risk of developing the condition. The distal 1q21.1 region contains several schizophrenia risk genes, including PRKAB2, BCL9, CHD1L, GJA5, and GJA8. This review focuses on the roles of these five genes in brain function and explores their potential pathophysiological mechanisms in schizophrenia. By synthesizing current evidence, this review aims to deepen the understanding of schizophrenia by outlining its genetic architecture and molecular mechanisms, thereby providing a comprehensive framework for exploring disease pathogenesis.
More Related Videos
09:16Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Psychological and Sociocultural Causes of Schizophrenia
Schizophrenia
Meiosis I
Personality Disorders: Schizotypal and Histrionic
Schizotypal Personality Disorder: Eccentric Behavior and Social Withdrawal
Schizotypal personality disorder is marked by odd or eccentric...