Wanjing Lai, Yingying Zhao, Yalan Chen, Zhenzhu Dai, Ruhai Chen, Yimei Niu, Xiaoxia Chen, Shuting Chen, Guanqun Huang, Ziyun Shan, Jiajun Zheng, Yu Hu, Qingpei Chen, Siyi Gong, Sai Kang, Hui Guo, Xiaokuang Ma, Youqiang Song, Kun Xia, Jie Wang, Libing Zhou, Kwok-Fai So, Kai Wang, Shenfeng Qiu, Li Zhang, Jiekai Chen, Lingling Shi
Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions. Different mutations on a single ASD gene contribute to heterogeneity of disease phenotypes, possibly due to functional diversity of generated isoforms. SHANK2, a causative gene in ASD, demonstrates this phenomenon, but there is a scarcity of tools for studying endogenous SHANK2 proteins in an isoform-specific manner. Here, we report a point mutation on SHANK2, which is found in a patient with autism, located on exon of the SHANK2B transcript variant (NM_133266...
May 4, 2024: Molecular Psychiatry