CREBBP variants underlying Menke-Hennekam syndrome exhibit histone acetyltransferase hyperactivity with divergent phase behaviors
Taiga Aoki, Yasuyuki Fukuhara, Tetsumin So, Arisa Igarashi, Masahiko Yamamori, Kumiko Yanagi, Tomoko Kawai, Rika Kosaki, Kenji Kurosawa, Yoichi Matsubara, Tadashi Kaname
This study identifies two CREBBP variants causing Menke-Hennekam syndrome that increase HAT activity but disrupt phase separation differently, with HAT inhibition restoring condensate dynamics in one variant.
medRxiv · Oct 27, 2026 · PreprintGenetic & Genomic Medicine