A Single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome

Abstract

Background: InheritableNORpolyagglutination is a rare phenomenon caused by the unusual Gal(α1-4)GalNAc glycolipid epitope. Results: A point mutation, 631 C>G, in the gene encoding Gb3/CD77 synthase causes the enzyme to synthesize both Gal(α1-4)Gal- and Gal(α1-4) GalNAc- moieties. Conclusion: The results pinpoint the cause of the NOR phenotype. Significance: This is the first report of an altered acceptor specificity of a glycosyltransferase caused by a point mutation. © 2012 by The American Society for Biochemistry and Molecular Biology, Inc.