[3P-0363] Structure-based functional analysis of a novel de novo missense variant of KMT2B identified by whole-exome sequencing in a Japanese patient with childhood-onset progressive generalized dystonia

○Kazuhito Satou¹, Kumiko Yanagi¹, Sadao Nakamura², Yasutsugu Chinen², Yoichi Matsubara³, Tadashi Kaname¹ (1.Dept. of Genome Med., Res. Inst., Natl. Ctr. for Child Health and Dev., 2.Dept. of Child Health and Welf. (Pediatr.), Grad. Sch. of Med., Univ. of the Ryukyus, 3.Res. Inst., Natl. Ctr. for Child Health and Dev.)

Childhood-onset progressive generalized dystonia, DYT28, Whole-exome sequencing (WES), Structure-based functional analysis, Initiative on rare and undiagnosed diseases (IRUD)