RGD Reference Report - Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. - Rat Genome Database

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Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

Authors: Hansske, B  Thiel, C  Lubke, T  Hasilik, M  Honing, S  Peters, V  Heidemann, PH  Hoffmann, GF  Berger, EG  Von Figura, K  Korner, C 
Citation: Hansske B, etal., J Clin Invest. 2002 Mar;109(6):725-33.
RGD ID: 1599432
Pubmed: PMID:11901181   (View Abstract at PubMed)
PMCID: PMC150909   (View Article at PubMed Central)
DOI: DOI:10.1172/JCI14010   (Journal Full-text)

Deficiency of the Golgi enzyme UDP-Gal:N-acetylglucosamine beta-1,4-galactosyltransferase I (beta4GalT I) (E.C.2.4.1.38) causes a new congenital disorder of glycosylation (CDG), designated type IId (CDG-IId), a severe neurologic disease characterized by a hydrocephalus, myopathy, and blood-clotting defects. Analysis of oligosaccharides from serum transferrin by HPLC, mass spectrometry, and lectin binding revealed the loss of sialic acid and galactose residues. In skin fibroblasts and leukocytes, galactosyltransferase activity was reduced to 5% that of controls. In fibroblasts, a truncated polypeptide was detected that was about 12 kDa smaller in size than wild-type beta4GalT I and that failed to localize to the Golgi apparatus. Sequencing of the beta4GalT I cDNA and gene revealed an insertion of a single nucleotide (1031-1032insC) leading to premature translation stop and loss of the C-terminal 50 amino acids of the enzyme. The patient was homozygous and his parents heterozygous for this mutation. Expression of a corresponding mutant cDNA in COS-7 cells led to the synthesis of a truncated, inactive polypeptide, which localized to the endoplasmic reticulum.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
congenital disorder of glycosylation susceptibilityIAGP 1599432DNA:insertion: and 1031insCRGD 
congenital disorder of glycosylation  ISOB4GALT1 (Homo sapiens)1599432; 1599432 RGD 

Objects Annotated

Genes (Rattus norvegicus)
B4galt1  (beta-1,4-galactosyltransferase 1)

Genes (Mus musculus)
B4galt1  (UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1)

Genes (Homo sapiens)
B4GALT1  (beta-1,4-galactosyltransferase 1)


Additional Information