Scientific Article 🇬🇧 Directly KS related

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report

person Dmitrijs Rots et al., Frontiers in Genetics

calendar_today May 29, 2026

Frontiers abstract reports a male proband with compound heterozygous EHMT2 variants, developmental delay, autism, hypotonia and congenital anomalies. Molecular profiling showed a DNA methylation pattern consistent with Kleefstra syndrome type 1, supporting EHMT2’s role in a recessive neurodevelopmental disorder overlapping KS.