Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

M. Filocamo, G. Bonuccelli, F. Corsolini, R. Mazzotti, R. Cusano, R. Gatti

Research output: Contribution to journalArticlepeer-review

Abstract

Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene. We report here the mutational analysis of a total of 40 unrelated Italian MPS II patients ranging from mild to severe phenotype. We are able to assign the genotype to 29 of them (72.5%), identifying 22 different mutations, five of which are unpublished (c.533delTT, W12X, N265I, c.1131-1142del, c.1131-1305del). A total of 55.2% of the molecularly characterised patients resulted from missense mutations, 20.7% from nonsense mutations, and another 13.8% of patients from small deletions (

Original languageEnglish
Pages (from-to)164-165
Number of pages2
JournalHuman Mutation
Volume18
Issue number2
Publication statusPublished - Aug 2001

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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