Scientific Article 🇬🇧 Directly KS related

De novo EHMT2 variants cause an autosomal dominant EHMT2 -related Kleefstra syndrome via loss of G9a methyltransferase activity

person Hnízda, A., Martinez-Delgado, B., Sanchez- Ponce, D. et al.

calendar_today Jun 29, 2026

Researchers have identified a new autosomal dominant form of Kleefstra syndrome caused by de novo variants in the **EHMT2** gene. The study shows these mutations disrupt G9a enzyme activity, producing clinical features that closely resemble classic EHMT1-related Kleefstra syndrome. The findings establish EHMT2-related Kleefstra syndrome as a distinct genetic disorder and may improve diagnosis and future research.