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

doi:10.1023/A:1005323918923

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article

Abstract

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 language	English
Pages (from-to)	803-806
Number of pages	4
Journal	Journal of Inherited Metabolic Disease
Volume	20
Issue number	6
DOIs	https://doi.org/10.1023/A:1005323918923
Publication status	Published - 1997

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Endocrinology

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Gatti, R., DiNatale, P., Villani, G. R. D., Filocamo, M., Miller, V., Guo, X. H., Nelson, P. V., Scott, H. S., & Hopwood, J. J. (1997). Mutations among Italian mucopolysaccharidosis type I patients. Journal of Inherited Metabolic Disease, 20(6), 803-806. https://doi.org/10.1023/A:1005323918923

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abstract = "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.",

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AU - Gatti, R.

AU - DiNatale, P.

AU - Villani, G. R D

AU - Filocamo, M.

AU - Miller, V.

AU - Guo, X. H.

AU - Nelson, P. V.

AU - Scott, H. S.

AU - Hopwood, J. J.

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