Article
The complex etiology of autism spectrum disorder due to missense mutations of CHD8.
Molecular psychiatry - 1 Jul 2024
Shiraishi Taichi, Katayama Yuta, Nishiyama Masaaki, Shoji Hirotaka, Miyakawa Tsuyoshi, Mizoo Taisuke, Matsumoto Akinobu, Hijikata Atsushi, Shirai Tsuyoshi, Mayanagi Kouta, Nakayama Keiichi I
Abstract excerpt
CHD8 is an ATP-dependent chromatin-remodeling factor encoded by the most frequently mutated gene in individuals with autism spectrum disorder (ASD). Although many studies have examined the consequences of CHD8 haploinsufficiency in cells and mice, few have focused on missense mutations, the most common type of CHD8 alteration in ASD patients. We here characterized CHD8 missense mutations in ASD patients according...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.