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.
摘要：
精神分裂症是一种神经精神障碍，其特征是幻觉等各种症状，妄想,混乱的思维。这种疾病的病因是未知的;然而,它与许多可能导致精神分裂症病理的微缺失综合征有关。在这篇综述中，我们全面分析了各种微缺失综合征的作用，如3q29，15q13.3和22q11.2，已知与精神分裂症有关。多种因素导致精神分裂症的表型,但是破坏基因调节和损害大脑功能和认知的拷贝数变异是已经确定的原因之一。多个案例研究表明，微缺失区域中一个或多个基因的丢失会导致大脑活动缺陷。在这篇文章中,我们提出了一个连贯的范例,将拷贝数变异(CNVs)与精神分裂症相关的众多神经和行为异常联系起来.这将有助于了解微缺失的不同方面以及它们如何在精神分裂症的病理生理学中发挥作用。
