De novo mutation in RING1 with epigenetic effects on neurodevelopment

Significance As part of the polycomb repressive complex 1, RING1 contributes to epigenetic regulation of gene expression during development. We identified a de novo mutation in RING1 in a patient with neurological, skeletal, and immunological abnormalities. The mutation disrupts the ability of RING1 to ubiquitylate histone H2A in nucleosomes, without disrupting its ability to catalyze ubiquitin chain formation. The comparable mutation in...