title: [Molecular diagnosis of congenital disorders of glycosylation].
abstract: 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.
authors.affiliation: Laboratoire de biochimie A, Hôpital Bichat (AP-HP), Paris, France. sandrine.vuillaumier@bch.ap-hop-paris.fr
authors.forename: S
authors.initials: S
authors.lastname: Vuillaumier-Barrot
mesh_terms: D000328:Adult; D000483:Alleles; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D005260:Female; D005602:France; D005787:Gene Frequency; D036281:Genetic Research; D006026:Glycoside Hydrolases / Q000172:deficiency; D006031:Glycosylation; D016695:Glycosyltransferases / Q000172:deficiency; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency; D009154:Mutation
chemical_list: D016695:Glycosyltransferases; D006026:Glycoside Hydrolases; D008359:Mannose-6-Phosphate Isomerase