KDM4C

The KDM4C protein is a histone demethylase that specifically removes trimethyl groups from lysine-9 and lysine-36 residues of histone H3, playing a central role in gene expression regulation through chromatin modification. Mutations in this gene cause intellectual disability with dysmorphic features, which follows an autosomal dominant inheritance pattern. The condition typically involves developmental delays and distinctive facial features, representing a relatively recently described neurodevelopmental disorder.