Missense Mutation ADNP p.C687R Disrupts Chromatin Regulation and GABAergic Differentiation in HVDAS
Qi Chen, Xixi Liu, Mengnan Wu, Daijing Sun, Xingyu Ding, Mengling Zhou, Wenzhu Peng, Yan Cheng, Biqing Xue, Ning Tang, Gang Xu, Yilin Tai, Qiong Xu, Man Xiong, Yan ping Jiang
The paper investigates the missense mutation ADNP p.C687R in HVDAS, showing it disrupts chromatin regulation and GABAergic differentiation through gain-of-function mechanisms.
bioRxiv · Nov 10, 2025 · PreprintNeuroscience