Document Detail

Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
MedLine Citation:
PMID:  12736397     Owner:  NLM     Status:  MEDLINE    
A description is provided of the clinical presentation in an infant of the recently described congenital disorder of glycosylation type Ig, and the changes affecting glycosylation of red cell membrane band 3, the anion exchanger. It has been shown that the condition stems from a homozygous mutation within the human ortholog of yeast ALG12 gene, which encodes a dolichol-P-mannose:Man7GlcNAc2-PP-dolichol alpha,1-6 mannosyltransferase of the endoplasmic reticulum. The clinical phenotype included prominent central and peripheral manifestations in the CNS. Although the infant studied had no anemia, band 3 abnormally separated into two fractions upon electrophoresis. The chemical composition of the glycans of both fractions was analyzed in detail. The fraction with low electrophoretic mobility was moderately hypoglycosylated (by 27%) and its mannose content was normal. The fraction with high electrophoretic mobility was deeply carbohydrate deficient (by 64%) and had 1 mol mannose in excess but only three residues of N-acetylglucosamine. Glycophorin A was hypoglycosylated with respect to O-linked glycans. Glycosphingolipids of red cells were normal. We suggest that the incomplete biosynthesis of the N-linked glycan of band 3 was largely caused by the persistence of the 3-linked mannose residue on the 6-mannose arm of the trimannosyl moiety of the glycoprotein. It is remarkable that the changes recorded in band 3 have no clinical consequences. Band 3 alteration might serve as an additional indicator (some serum N-glycoproteins of hepatic origin are also indicative) of the congenital disorder of glycosylation type Ig.
Ewa Zdebska; Brigitte Bader-Meunier; Pierre-Olivier Schischmanoff; Thierry Dupré; Nathalie Seta; Gil Tchernia; Jerzy Kościelak; Jean Delaunay
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-05-07
Journal Detail:
Title:  Pediatric research     Volume:  54     ISSN:  0031-3998     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-07-25     Completed Date:  2004-03-15     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  224-9     Citation Subset:  IM    
Service d'Hématologie, d'Immunologie et de Cytogénétique, Hôpital de Bicêtre, 78 rue du Général-Leclerc; 94275 Le Kremlin-Bicêtre, France.
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MeSH Terms
Anion Exchange Protein 1, Erythrocyte / metabolism*
Blood Substitutes / metabolism*
Carbohydrate Metabolism, Inborn Errors / metabolism*
Carbohydrate Sequence
Child, Preschool
Electrophoresis, Polyacrylamide Gel
Glycophorin / metabolism
Glycosphingolipids / metabolism
Mannosyltransferases / metabolism
Molecular Sequence Data
Polysaccharides / metabolism
Reg. No./Substance:
0/Anion Exchange Protein 1, Erythrocyte; 0/Blood Substitutes; 0/Glycophorin; 0/Glycosphingolipids; 0/Polysaccharides; EC 2.4.1.-/Mannosyltransferases

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