Research 🇩🇪 Directly KS related

EHMT2 Variants: Seven New Genetic Changes Point to Kleefstra Syndrome

person Redaktion ad-hoc-news.de

calendar_today Oct 3, 2026

A news report summarizes a Nature Communications study of seven de novo EHMT2 variants in patients and a mouse model. The variants made stable but inactive G9a, an enzyme that helps regulate gene activity through histone methylation. Findings resembled KS1; researchers propose a separate EHMT2-associated Kleefstra syndrome classification.