A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome

Gloria Bonuccelli, Stefano Regis, Mirella Filocamo, Fabio Corsolini, Francesco Caroli, Rosanna Gatti

Research output: Contribution to journalArticlepeer-review

Abstract

A large deletion in the iduronate-2-sulfatase (IDS) gene has been found in a patient affected by an intermediate form of Hunter syndrome (mucopolysaccharidosis II). The deletion involves exons 2-4, the breakpoints lying respectively in intron 1, at position 376, and in intron 4, at position 5725. cDNA analysis revealed a direct exon 1-exon 5 junction due to the deletion resulting in a frameshift mutation.

Original languageEnglish
Pages (from-to)474-477
Number of pages4
JournalClinical Genetics
Volume53
Issue number6
Publication statusPublished - Jun 1998

Keywords

  • Deletion
  • Hunter syndrome
  • Iduronate-2-sulfatase
  • Mutation analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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