New RPN1 Mutation Defines a Rare Glycosylation Disorder Linked to Neurodevelopmental Issues
Scientists identify RPN1-CDG, a novel congenital disorder of glycosylation caused by a truncated ribophorin I from an RPN1 mutation found in two siblings, which impairs glycosylation via the OST complex and explains a spectrum of neurodevelopmental and multi-organ symptoms; this expands the OST-related CDG gene set to eight and enables definitive diagnoses for undiagnosed patients.