MINI REVIEW article
Front. Genet.
Sec. Behavioral and Psychiatric Genetics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1612654
This article is part of the Research TopicPsychiatric Insights in Genetic and Chromosomal DisordersView all 3 articles
A review on the relationship between the distal 1q21.1 microdeletion and Schizophrenia
Provisionally accepted
- 1West China School of Medicine, Sichuan University, Chengdu, China
- 2Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
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.
Keywords: Schizophrenia, Distal 1q21.1 microdeletion, PRKAB2, BCL9, CHD1L
Received: 16 Apr 2025; Accepted: 18 Jul 2025.
Copyright: © 2025 Guo, Guo, Liu and Hu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Xijing Liu, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China
Ting Hu, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan Province, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.