Open Access Article

Advances in International Psychology. 2022; 4: (2) ; 1-5 ; DOI: 10.12208/j.aip.20220013.

Recent progress on molecular mechanism of DeSanto-Shinawi syndrome

作者: 曹绪, 熊博 *

华中科技大学同济医学院法医学系 湖北武汉

*通讯作者: 熊博,单位:华中科技大学同济医学院法医学系 湖北武汉;

发布时间: 2022-12-30 总浏览量: 75



关键词: 儿童心理行为异常;DeSanto-Shinawi综合征;神经发育;WAC基因;自噬;视力障碍


The abnormal development of nervous system can lead to the abnormality of brain structure, function and psychological behavior of children, affecting the development of children's mental intelligence. Heredity is a necessary material prerequisite for individual psychological development. DeSanto-Shinawi syndrome is a kind of neurodevelopmental disorder caused by an insufficient of WAC haploid. This article reviews the reported clinical phenotypes of DeSanto-Shinawi syndrome, structure and biological functions of WAC Gene. By summarizing the existing studies on the molecular mechanism of DeSanto-Shinawi syndrome, two directions for future research on the role of WAC gene in nervous system development are pointed out. The article emphasizes the importance of deeply exploring the influence of neural pathway activation on autophagy regulation, and proposes that visual impairment is a noteworthy phenotype in patients with WAC gene deletion. With the deepening of this research, it is bound to have a profound impact on the prevention and eventual resolution of psychological diseases and behavioral disorders in children through a comprehensive approach.

Key words: Psychological and behavioral disorders in children; DeSanto-Shinawi syndrome; WAC gene; Autophagy; Visual impairment

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曹绪, 熊博, DeSanto-Shinawi综合征研究进展[J]. 国际心理学进展, 2022; 4: (2) : 1-5.