Article Abstract:
The gene encoding the enzyme responsible for mucopolysaccharidosis IIIC (MPS IIIC) or Sanfilippo C was known to be localized to chromosome 8, but it was to be identified. A full-length mouse expressed sequence tag that is also expressed in human MPS IIIC is used to identify the full-length human homolog gene (HGSNAT), the mutational analysis of which identifies a splice-junction mutation that accounts for three mutant alleles, and a single base-pair insertion accounts for a fourth mutant allele.
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Article Abstract:
An automated sequencing procedure has been developed to quickly identify mutations in the gene for alpha-N-acetylglucosaminidase, the cause of Sanfilippo syndrome type B, or mucopolysaccharidosis type IIIB. In a study of eight affected families, eight new mutations were found, of which five are missense mutations, two are nonsense mutations and one involves a 24-nucleotide insertion. Six novel nonpathological mutations have also been found.
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Article Abstract:
Ten additional deleterious mutations have been identified in the gene for the enzyme alpha-N-acetylglucosaminidase, NAGLU. A deficiency of this enzyme causes the rare autosomal recessive disease Sanfilippo syndrome type B. The deleterious effect of the mutations has been shown by stable transfection of Chinese hamster ovary cells using cDNA corresponding to the NAGLU missense mutations.
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