De novo HDAC3 variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder
Jihoon G. Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, Hyun Yong Koh, Annapurna Poduri, Deciphering Developmental Disorders Study, Jung Min Ko, Dohyun Han, Jong‐Hee Chae, Chul‐Hwan Lee
This study identifies de novo HDAC3 variants in patients with neurodevelopmental disorders and shows they cause reduced HDAC activity, disrupted protein interactions, and impaired nuclear localization.
medRxiv · Jan 29, 2024 · PreprintGenetic & Genomic Medicine