In humans, heterozygousde novo KAT8 variants in the chromobarrel and catalyticdomains are associated with intellectual disability, seizures, autism, anddysmorphisms[57].Cerebrum-specific KAT8 knockout mice, generated with Emx1-Cre, exhibitcerebral hypoplasia in the neocortex and hippocampus, prematureneurogenesis, growth retardation, and early lethality before weaning,largely due to improper neural stem and progenitor cell development andmassive apoptosis. The gene discussed is KAT8; the disease is autism.