De novo variants in RNF2 causes a novel neurodevelopmental disorder (Luo-Schoch-Yamamoto Syndrome)
Updated: Aug 7, 2022
We report two pediatric patients with overlapping neurodevelopmental phenotypes who both carry rare de novo missesse variants in RNF2, a gene that encodes a subunit of the Polycomb Repressor Complex 1 (PRC1). Using a functional assay that monitors the activity of the Polycomb complex in vivo in flies, we demonstrated that the two disease linked variants are loss-of-function alleles, supporting pathogenicity. This disease has been named "Luo-Schoch-Yamamoto Syndrome (LUSYAM, OMIM #619460)" by curators at OMIM (Online Mendelian Inheritance in Man).