Elisa A. Waxman

Jul 11, 2023 | nature.com | Carolina Gracia-Diaz |Qian Yang |Natalia Padilla |Elisa A. Waxman |Dong Li |Paul Mark | +14 more

AbstractGenetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex.