Takumi Nakamura, Toru Yoshihara, Chiharu Tanegashima, Mitsutaka Kadota, Yuki Kobayashi, Kurara Honda, Mizuho Ishiwata, Junko Ueda, Tomonori Hara, Moe Nakanishi, Toru Takumi, Shigeyoshi Itohara, Shigehiro Kuraku, Masahide Asano, Takaoki Kasahara, Kazuo Nakajima, Takashi Tsuboi, Atsushi Takata, Tadafumi Kato
Recent studies have consistently demonstrated that the regulation of chromatin and gene transcription plays a pivotal role in the pathogenesis of neurodevelopmental disorders. Among many genes involved in these pathways, KMT2C, encoding one of the six known histone H3 lysine 4 (H3K4) methyltransferases in humans and rodents, was identified as a gene whose heterozygous loss-of-function variants are causally associated with autism spectrum disorder (ASD) and the Kleefstra syndrome phenotypic spectrum. However, little is known about how KMT2C haploinsufficiency causes neurodevelopmental deficits and how these conditions can be treated...
March 26, 2024: Molecular Psychiatry