A novel mutation in intron 1 of Wnt1 causes developmental loss of dopaminergic neurons in midbrain and ASD-like behaviors in rats

pubmed: wnt1 2023-12-07


Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with a strong genetic liability. Despite extensive studies, however, the underlying pathogenic mechanism still remains elusive. In the present study, we identified a homozygous mutation in the intron 1 of Wnt1 via large-scale screening of ASD risk/causative genes and verified that this mutation created a new splicing donor site in the intron 1, and consequently, a decrease of WNT1 expression. Interestingly, humanized rat...



From feeds:

Exome ยป pubmed: wnt1



Yongyi Li, Mingwei Zhu, Wen-Xiong Chen, Jing Luo, Xin Li, Yangyang Cao, Meng Zheng, Shanshan Ma, Zhilan Xiao, Yani Zhang, Linyan Jiang, Xiumin Wang, Ting Tan, Xia Li, Qian Gong, Xiaoli Xiong, Jun Wang, Mingxi Tang, Mingtao Li, Ya-Ping Tang

Date tagged:

12/07/2023, 10:41

Date published:

09/01/2023, 06:00