A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review

Tzetis et al. (2025) identified a novel EHMT1 frameshift in a patient with Kleefstra syndrome with Genomize-SEQ, and showed that the affected protein domain predicts phenotypic severity — a finding with direct implications for clinical counseling.