title: Congenital disorder of glycosylation-Ic: case report and genetic defect.
abstract: The clinical phenotype and the molecular defect of a patient with a new subtype of congenital disorders of glycosylation (CDG-Ic, formerly designated as CDGS type V) characterized by a deficiency of Dol-P-Glc: Man9GlcNAc2-PP-Dol glucosyltransferase is described. The clinical picture presents with several features similar to CDG-Ia (phosphomannomutase 2 deficiency) such as hypotonia and atactic-dystonic movements. In contrast to CDG-Ia, the course of the disease appears milder. The head growth, the functioning of the peripheral nerves and the initial cerebellar development were normal. Sequencing of the patient's Dol-P-Glc: Man9GlcNAc2-PP-Dol glucosyltransferase cDNA revealed an in-frame deletion of three nucleotides leading to the loss of isoleucine 299.
authors.affiliation: Abt Kinderheilkunde, Schwerpunkt Neuropädiatrie, Georg-August-Universität, Göttingen, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
authors.forename: C
authors.initials: C
authors.lastname: Körner
authors.forename: U
authors.initials: U
authors.lastname: Holzbach-Eberle
authors.forename: K
authors.initials: K
authors.lastname: von Figura
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D005964:Glucosyltransferases / Q000235:genetics; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018076:DNA, Complementary; D007532:Isoleucine; D005964:Glucosyltransferases