Mutations Among Italian Mucopolysaccharidosis Type I Patients

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1998 Jan 14

PMID 9427149

Citations 9

Authors

R Gatti

P DiNatale

G R Villani

M Filocamo

V Muller

X H Guo

P V Nelson

H S Scott

J J Hopwood

Affiliations

Soon will be listed here.

Abstract

A group of 27 Italian patients was screened for alpha-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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References

Yamagishi A, Tomatsu S, Fukuda S, Uchiyama A, Shimozawa N, Suzuki Y . Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Hum Mutat. 1996; 7(1):23-9. DOI: 10.1002/(SICI)1098-1004(1996)7:1<23::AID-HUMU3>3.0.CO;2-Q. View

Scott H, Litjens T, Hopwood J, Morris C . A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. Hum Mutat. 1992; 1(2):103-8. DOI: 10.1002/humu.1380010204. View

Scott H, Litjens T, Nelson P, Brooks D, Hopwood J, Morris C . alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Hum Mutat. 1992; 1(4):333-9. DOI: 10.1002/humu.1380010412. View

Gatti R, BORRONE C, Filocamo M, Pannone N, Di Natale P . Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells. Prenat Diagn. 1985; 5(2):149-54. DOI: 10.1002/pd.1970050209. View

Ashton L, Brooks D, McCourt P, Muller V, Clements P, Hopwood J . Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. Am J Hum Genet. 1992; 50(4):787-94. PMC: 1682646. View