De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
Aleš Hnı́zda, Beatriz Martínez–Delgado, Diana Sánchez-Ponce, Javier Alonso, Jeanne Amiel, Tania Attié‐Bitach, Ariadna Bada-Navarro, Beatriz Baladrón, Eva Bermejo, Vítězslav Brinsa, Ivana Buková, Rosario Cazorla-Calleja, Sylvie Cervenkova, Shanshan Chow, Petr Dušek, , Lenka Nosková
The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.
Nature Communications · Jul 1, 2026Peer-reviewedGenetics