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Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects

Published online by Cambridge University Press:  01 January 1999

N. ALIF
Affiliation:
Laboratory of Cellular and Molecular Biology, Ibnou Zohr University School of Sciences, Agadir, Morocco
K. HESS
Affiliation:
Laboratory of Medical Biochemistry, School of Medicine, Nancy, France
J. STRACZEK
Affiliation:
Laboratory of Medical Biochemistry, School of Medicine, Nancy, France
S. SEBBAR
Affiliation:
Hassan II Hospital, Agadir, Morocco
A. N'BOU
Affiliation:
Hassan II Hospital, Agadir, Morocco
P. NABET
Affiliation:
Laboratory of Medical Biochemistry, School of Medicine, Nancy, France
B. DOUSSET
Affiliation:
Laboratory of Medical Biochemistry, School of Medicine, Nancy, France
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Abstract

A group of 13 Moroccan patients with MPS I and their families, including three siblings and twin siblings, was screened for mutations of the α-L-iduronidase gene using fluorescence-assisted mismatch analysis (FAMA) and cycle sequencing of PCR products. The P533R mutation, which is rare in Europeans, was identified in 92% of mutant alleles (24/26). This is the highest frequency of this mutation detected in patients with Hurler syndrome. None of the patients carried the W402X or Q70X alleles, the most common MPS I mutations in Europeans. These results suggest that the P533R mutation constitutes the genetic lesion which results in MPS I in people of Moroccan descent and provides yet more evidence for the uneven geographical distribution of mutations in MPS I.

Type
Research Article
Copyright
University College London 1999

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