Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study
OPEN Orphanet journal of rare diseases | 27 Jun 2013
E Guillén-Navarro, MR Domingo-Jiménez, C Alcalde-Martín, R Cancho-Candela, ML Couce, E Galán-Gómez and O Alonso-Luengo
Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and patients' self-reported description of signs and symptoms. So although it is rare in heterozygous carriers, investigations in other types of inherited X-linked disorders suggest that some clinical manifestations may be a possibility. The aim of this study was to evaluate the clinical pattern in female carriers of MPS II and to determine whether clinical symptoms were associated with the X-chromosome inactivation (XCI) pattern and age.
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