Article
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.
Molecular psychiatry - 1 May 2025
Tan Senwei, Zhang Qiumeng, Zhan Rui, Luo Si, Han Yaoling, Yu Bin, Muss Candace, Pingault Veronique, Marlin Sandrine, Delahaye Andrée, Peters Sophia, Perne Claudia, Kreiß Martina, Spataro Nino, Trujillo-Quintero Juan Pablo, Racine Caroline, Tran-Mau-Them Frederic, Phornphutkul Chanika, Besterman Aaron D, Martinez Julian, Wang Xiuxia, Tian Xiaoyu, Srivastava Siddharth, Urion David K, Madden Jill A, Saif Hind Al, Morrow Michelle M, Begtrup Amber, Li Xing, Jurgensmeyer Sarah, Leahy Peter, Zhou Shimin, Li Faxiang, Hu Zhengmao, Tan Jieqiong, Xia Kun, Guo Hui
Abstract excerpt
De novo variants adjacent to the canonical splicing sites or in the well-defined splicing-related regions are more likely to impair splicing but remain under-investigated in autism spectrum disorder (ASD). By analyzing large, recent ASD genome sequencing cohorts, we find a significant burden of de novo potential splicing-disrupting variants (PSDVs) in 5048 probands compared to 4090 unaffected siblings. We...
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- Humans
- Glycogen Synthase Kinase 3 beta
- Animals