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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Acetylglucosamine / analogs & derivatives*
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Acetylglucosamine / urine
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Adolescent
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Amino Acid Sequence
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Aspartylglucosylaminase / genetics*
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Base Sequence
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Blotting, Western
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Exons / physiology*
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Humans
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Lysosomal Storage Diseases / genetics*
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Lysosomal Storage Diseases / urine
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Male
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Mauritania
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Molecular Sequence Data
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Polymerase Chain Reaction
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Protein Processing, Post-Translational / physiology
Substances
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N-acetylglucosaminylasparagine
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Aspartylglucosylaminase
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Acetylglucosamine