Molecular diagnosis of congenital disorders of glycosylation

Congenital disorders of glycosylation are a group of inherited disorders, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation. CDG-I comprises all defects in the assembly of the dolichol-linked glycan and its transfer to the protein, whereas CDG-II refers to defects in the processing of the protein-bound glycans. The diagnosis is done by the presence of hypoglycosylated glycoproteins in the serum and typing by enzymatic assay (available for CDG-Ia and Ib) and/or mutation detection. We give an overview of the latest results of molecular diagnosis from the French CDG I families. We report novel mutations and their functional study. In addition we looked for a founder effect for the most frequent mutations observed in the French population.