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Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).

Abstract
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). Over 100 different mutations in the NAGLU gene have been identified in Sanfilippo syndrome type B patients; however, no large deletions have been reported. Here we present the first case of a large homozygous intragenic NAGLU gene deletion identified in an affected child of consanguineous parents. Long range and multiplex PCR methods were used to characterize this deletion which encompasses exons 3 and 4 and is 1146 base pairs long. We propose that Alu element-mediated unequal homologous recombination between an Alu-Y in intron 2 and an Alu-Sx in intron 4 is the likely mechanism for this deletion, thereby contributing further insight into the molecular etiology of this disorder and providing additional evidence of its allelic heterogeneity.
AuthorsKristen J Champion, Monica J Basehore, Tim Wood, Anne Destrée, Pascal Vannuffel, Isabelle Maystadt
JournalMolecular genetics and metabolism (Mol Genet Metab) Vol. 100 Issue 1 Pg. 51-6 (May 2010) ISSN: 1096-7206 [Electronic] United States
PMID20138557 (Publication Type: Case Reports, Journal Article)
Copyright(c) 2010 Elsevier Inc. All rights reserved.
Chemical References
  • alpha-N-acetyl-D-glucosaminidase
  • Acetylglucosaminidase
Topics
  • Acetylglucosaminidase (genetics)
  • Base Sequence
  • Child
  • Consanguinity
  • Female
  • Humans
  • Infant
  • Molecular Sequence Data
  • Mucopolysaccharidosis III (enzymology, genetics)
  • Pedigree
  • Sequence Deletion

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