Scientific Article 🇪🇸 Mentions KS

EHMT2 Variants Identified as a New Cause of Kleefstra-Like Neurodevelopmental Disorder

person Salud a Diario

calendar_today Jul 12, 2026

An international study has identified de novo variants in EHMT2 as the cause of a new ultra-rare neurodevelopmental disorder resembling Kleefstra syndrome. The variants impair G9a methyltransferase activity, improving diagnosis for previously unexplained cases and opening new paths for research into disease mechanisms and future therapies.