Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.
A group of 13 Moroccan patients with MPS I and their families, including three siblings and twin siblings, was screened for mutations of the alpha-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.
Alif
N
N
Laboratory of Cellular and Molecular Biology, Ibnou Zohr University School of Sciences, Agadir, Morocco.
Hess
K
K
Straczek
J
J
Sebbar
S
S
N'Bou
A
A
Nabet
P
P
Dousset
B
B
D000293:Adolescent; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000172:deficiency / Q000235:genetics; D008297:Male; D009018:Morocco; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation
D017931:DNA Primers; D007068:Iduronidase