Congenital disorder of glycosylation-Ic: case report and genetic defect.
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.
Hanefeld
F
F
Abt Kinderheilkunde, Schwerpunkt Neuropädiatrie, Georg-August-Universität, Göttingen, Germany.
Körner
C
C
Holzbach-Eberle
U
U
von Figura
K
K
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
D018076:DNA, Complementary; D007532:Isoleucine; D005964:Glucosyltransferases