This website provides information on patients with clinically relevant variants in the EHMT2 gene, including clinical and molecular data, as well as ongoing research initiatives.

EHMT2 is a candidate gene for Mendelian neurodevelopmental disorders (NDDs) with a Kleefstra-like phenotype. To date, only a few cases have been reported, including one related to a recessive inheritance pattern (Carvalho et al., 2024), which involves a homozygous splice site variant (NM_006709.5): c.328+2T>G, and another suggesting a possible dominant mechanism (Martinez-Delgado et al., 2024), linked to a missense variant in the SET domain (p.Ala1077Ser). Both patients presented with global developmental delay, intellectual disability, hypotonia, and subtle facial dysmorphisms, among other features.

The identification of additional individuals carrying deleterious EHMT2 variants, combined with robust functional studies, is essential to establish this gene as causative for NDDs.

This website was created to share and collect clinical and research data to expand knowledge and improve diagnosis of individuals with EHMT2 variants.

Ana Cristina Victorino Krepischi, PhD, University of São Paulo, São Paulo, Brazil, ana.krepischi@ib.usp.br

Maria J. Barrero, PhD, Instituto de Salud Carlos III, Madrid, Spain, mj.barrero@isciii.es

Laura Machado Lara Carvalho, PhD, University of São Paulo, São Paulo, Brazil, lauralara@usp.br

Beatriz Cristina de Oliveira, Master's Student, University of São Paulo, São Paulo, Brazil, bcristinaoliveira2026@usp.br 

Lenka Noskova, PhD, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic, lnosk@lf1.cuni.cz