New CDG: SRD5A3

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There are over 40 known congenital disorders of glycosylation (CDGs), and a reformulation of their nomenclature has been proposed by Dr. Jaak Jaeken, who described the first CDG (Jaeken et al, 2009, Biochim Biophys Acta 1792:825-6). A new CDG has now been identified in several families (Cantagrel et al, 2010, Cell 142:203-17). Patients present notably with neurological disease, coagulation defects and skin findings (ichtiosis, dermatitis). By linkage and sequencing of candidate genes, mutations were found in SRD5A3 , encoding an enzyme which converts polyprenol to dolichol, a membrane anchor for oligosaccharides, thus shedding new light on the earliest steps of protein N-glycosylation.

Philippe Campeau, MD

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