Premium
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
Author(s) -
Froissart Roseline,
Maire Irène,
Millat Gilles,
Cudry Stéphane,
Birot AnneMarie,
Bonnet Véronique,
Bouton Olivier,
Bozon Dominique
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02746.x
Subject(s) - hunter syndrome , genetics , gene , sulfatase , identification (biology) , biology , mucopolysaccharidosis type ii , medicine , computational biology , disease , biochemistry , enzyme , ecology , enzyme replacement therapy
We studied 70 unrelated Hunter patients and found a gene alteration in every patient. The molecular heterogeneity was very important. Large gene rearrangements were identified in 14 patients. Forty‐three different mutations were identified in the 56 other patients and 31 were not previously described. Deletions and insertions, splice site mutations were associated with a severe phenotype as nonsense mutations except Q531X. Only a few mutations were present in several patients making difficult genotype‐phenotype correlations. Mutation identification allows accurate carrier detection improving prenatal diagnosis. The mother was not found to be a carrier in five cases among the 44 sporadic cases. Haplotype analysis demonstrated a higher frequency of mutations in male meiosis.