Mutations among Italian mucopolysaccharidosis type I patients

R. Gatti, P. DiNatale, G. R D Villani, M. Filocamo, V. Miller, X. H. Guo, P. V. Nelson, H. S. Scott, J. J. Hopwood

Research output: Contribution to journalArticlepeer-review


A group of 27 Italian patients was screened for α-L-iduronidase mucopolysaccharidosis type I mutations. Mutations were found in 18 patients. with 28 alleles identified. The two most common mutations in northern Europeans (W402X and Q70X) accounted for 11% and 13% of the alleles, respectively. The R89Q mutation, uncommon in Europeans, was found only in one patient, accounting for 1 of 54 alleles (1.9%). The other mutations, P533R, A327P and G51D, accounted for 11%, 5.6% and 9.3% of the total alleles, respectively. Interestingly, the high frequency of the P533R mutation seems to be confined to Sicily and is higher than the 3% reported in a British/Australian study.

Original languageEnglish
Pages (from-to)803-806
Number of pages4
JournalJournal of Inherited Metabolic Disease
Issue number6
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology


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