案例报告:BRSK2中一种新型的移突变导致一名16岁的中国男孩患自闭症
Yu Hu1,2, Miao Li1,2, Yanmei Shen3
1The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China.
Frontiers in psychiatry
|September 6, 2023
概括
这项研究在患有自闭症谱系障碍 (ASD) 的患者中发现了一种新的BRSK2基因突变. 这些发现突出了BRSK2基因.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
背景情况:
- 氨酸/氨酸蛋白激酶,包括特定于大脑的氨酸/氨酸蛋白激酶2 (BRSK2),对于神经元发育和两极分化至关重要.
- BRSK2中的突变与神经发育障碍 (NDD) 相关,包括自闭症谱系障碍 (ASD),但详细的临床数据仍然有限.
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