Research 🇬🇧 Directly KS related

University of Manchester Researchers Identify EHMT2 Variants Linked to Kleefstra Syndrome

person Priya Deshmukh - Senior Editor, Health, Archyde

calendar_today Oct 3, 2026

Archyde reports on a Nature Communications study identifying seven de novo EHMT2 variants with molecular and clinical parallels to Kleefstra syndrome. Cell and mouse-model findings suggest altered G9a proteins lose enzyme activity and disrupt epigenetic gene regulation, supporting improved genetic diagnosis.