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Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.

Abstract
Hunter disease, an X-linked recessive lysosomal storage disorder, is caused by a deficiency in iduronate sulfatase activity. Sequence analysis of mRNA of fibroblasts of an intermediate phenotype patient showed a single C1327 to T nucleotide transition. This mutation resulted in a substitution of termination codon for normal arginine at position 443 of the peptide sequence. Expression studies with this abnormal cDNA in fibroblasts from the patient revealed a loss of enzymatic activity and instability of the mutated protein. We posturate that this mutation is probably the cause of the intermediate form of Hunter disease.
AuthorsK Sukegawa, S Tomatsu, K Tamai, M Ikeda, T Sasaki, M Masue, S Fukuda, Y Yamada, T Orii
JournalBiochemical and biophysical research communications (Biochem Biophys Res Commun) Vol. 183 Issue 2 Pg. 809-13 (Mar 16 1992) ISSN: 0006-291X [Print] United States
PMID1550586 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Iduronate Sulfatase
Topics
  • Base Sequence
  • Child
  • Fibroblasts
  • Gene Expression
  • Humans
  • Iduronate Sulfatase (genetics)
  • Male
  • Molecular Sequence Data
  • Mucopolysaccharidosis II (genetics)
  • Mutation (genetics)
  • Pedigree
  • Phenotype
  • Transfection

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