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Mutations among Italian mucopolysaccharidosis type I patients
Author(s) -
Gatti R.,
DiNatale P.,
Villani G.R.D.,
Filocamo M.,
Muller V.,
Guo X.H.,
Nelson P.V.,
Scott H.S.,
Hopwood J. J.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005323918923
Subject(s) - allele , mutation , genetics , mucopolysaccharidosis type i , mucopolysaccharidosis , allele frequency , human genetics , hurler syndrome , biology , mucopolysaccharidosis i , medicine , gene , disease , enzyme replacement therapy
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.