Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368, Wroclaw, Poland.
Department of Psychiatry, Wroclaw Medical University, Pasteura 10, 50-367, Wroclaw, Poland.
Mol Neurobiol. 2023 Apr;60(4):1854-1864. doi: 10.1007/s12035-022-03185-8. Epub 2022 Dec 29.
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.
精神分裂症是一种神经发育障碍，其发病机制涉及遗传和环境因素。导致精神分裂症发生的遗传易感性是广泛研究活动的主题，因为有关其发病机制的可靠数据将能够改善其治疗方法并开发新的治疗方法。该领域的大量研究都集中在遗传变异上，例如拷贝数变异（CNVs）或单核苷酸变异（SNVs）。某些由 CNVs 引起的遗传疾病，包括 22q11.2 微缺失综合征、伯恩赛德-巴特勒综合征（15q11.2 BP1-BP2 微缺失）或 1q21.1 微重复/微缺失综合征，与精神分裂症及各种神经和行为异常的发病风险增加相关。在本文中，我们提供了一个统一的框架，将这些 CNVs 及其相关的遗传疾病与精神分裂症及其各种神经和行为异常联系起来。
