COG6‐CDG: Novel variants and novel malformation
4 Citations•2022•
Lara Cirnigliaro, P. Bianchi, L. Sturiale
Birth Defects Research
A patient with COG6‐CDG with novel variants and a novel clinical feature namely a congenital recto‐vaginal fistula is described.
Abstract
Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1–8) is characterized by both N‐ and O‐protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG‐CDG). Patients with COG defects present with neurological and multisystem involvement and possible malformation occurrence. Eighteen patients with COG6‐CDG (COG6 mutations) were reported to date. We describe a patient with COG6‐CDG with novel variants and a novel clinical feature namely a congenital recto‐vaginal fistula.