CCP contributes to uncovering a new mechanism of a rare neurodevelopmental disorder

A new study published in Nature Communications has uncovered the mechanism of a rare neurodevelopmental disorder associated with variants in the EHMT2 gene. The research, led by Stanislav Kmoch from the First Faculty of Medicine at Charles University, brought together clinical genetics, genomic diagnostics, molecular and structural analyses, and experimental disease modelling.

The Czech Centre for Phenogenomics (CCP) played a key role in the experimental validation. The team of Radislav Sedláček created and characterised a genetically engineered mouse model carrying an EHMT2 variant corresponding to a variant identified in a patient.

The study demonstrates how national research infrastructures can connect an individual patient’s genetic finding with molecular mechanisms and experimental models. The newly developed mouse model provides an important tool for further research into the disease and for future studies of potential therapeutic approaches.

The work brought together researchers from CCP, the First Faculty of Medicine at Charles University, the National Centre for Medical Genomics, the Institute of Molecular Genetics and the Institute of Microbiology of the Czech Academy of Sciences at BIOCEV, University Hospital Ostrava and international partner institutions.

Read the full story and learn more about the study: De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity, Nature Communications (2026).

DOI: 10.1038/s41467-026-74987-w; Download the press release in CZ here