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.
CITATION STYLE
Wada, Y. (2009). Molecular Diagnosis of Congenital Disorders of Glycosylation. In Experimental Glycoscience (pp. 319–322). Springer Japan. https://doi.org/10.1007/978-4-431-77922-3_75
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