title: Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.
abstract: Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion mutation was found in a mildly affected AGU patient whose parents are first-cousins of Mauritian origin. One bp deletion at position 787 or 788 (delta T788) in exon 7 of the GA gene resulted in a frameshift and produced an immediate stop codon. The resulting truncated polypeptide was defective in its post-translational proteolytic processing and remained as a single chain (36 kDa) with no GA activity.
authors.affiliation: Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile 36688, USA.
authors.forename: H
authors.initials: H
authors.lastname: Park
authors.forename: M
authors.initials: M
authors.lastname: Rossiter
authors.forename: A H
authors.initials: AH
authors.lastname: Fensom
authors.forename: B
authors.initials: B
authors.lastname: Winchester
authors.forename: N N
authors.initials: NN
authors.lastname: Aronson
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D000595:Amino Acid Sequence; D001227:Aspartylglucosylaminase / Q000235:genetics*; D001483:Base Sequence; D015153:Blotting, Western; D005091:Exons / Q000502:physiology*; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000235:genetics* / Q000652:urine; D008297:Male; D008435:Mauritania; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011499:Protein Processing, Post-Translational / Q000502:physiology
chemical_list: C000009:N-acetylglucosaminylasparagine; D001227:Aspartylglucosylaminase; D000117:Acetylglucosamine