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.
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Authors | Kristen J Champion, Monica J Basehore, Tim Wood, Anne Destrée, Pascal Vannuffel, Isabelle Maystadt |
Journal | Molecular genetics and metabolism
(Mol Genet Metab)
Vol. 100
Issue 1
Pg. 51-6
(May 2010)
ISSN: 1096-7206 [Electronic] United States |
PMID | 20138557
(Publication Type: Case Reports, Journal Article)
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Copyright | (c) 2010 Elsevier Inc. All rights reserved. |
Chemical References |
- alpha-N-acetyl-D-glucosaminidase
- Acetylglucosaminidase
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Topics |
- Acetylglucosaminidase
(genetics)
- Base Sequence
- Child
- Consanguinity
- Female
- Humans
- Infant
- Molecular Sequence Data
- Mucopolysaccharidosis III
(enzymology, genetics)
- Pedigree
- Sequence Deletion
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