Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy

Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy

Serine/threonine protein kinases are involved in axon formation and neuronal polarization and have recently been implicated in autism spectrum disorder (ASD) and neurodevelopmental disorders (NDD). Here, we focus on BRSK2, which encodes brain-specific serine/threonine protein kinase 2. Although prev...

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Bibliographic Details
Main Authors: Yu Hu, Miao Li, Yanmei Shen, Tianyun Wang, Qiwei Liu, Zhonghua Lu, Hong Wang, Xuerong Luo, Lixin Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Psychiatry
Subjects:
BRSK2
autism
de novo mutation
exome sequence
clinical phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1205204/full

Internet

https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1205204/full

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