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Mucopolysaccharidosis type II in females and response to enzyme replacement therapy§


  • How to Cite this Article: Jurecka A, Krumina Z, Żuber Z, Różdżyńska-Świątkowska A, Kłoska A, Czartoryska B, Tylki-Szymańska A. 2012. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. Am J Med Genet Part A 158A:450–454.

  • Agnieszka Jurecka and Zita Krumina contributed equally to the study.

  • §

    Conflict of Interest: There was no potential, perceived, or real conflict of interest. There were no study sponsors. No honorarium, grant, or other form of payment was given to produce the manuscript.


Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase (IDS). Two affected girls with moderate and severe forms of MPS II with normal karyotypes and increased urinary dermatan sulphate and heparin sulphate excretion and marked deficiencies of IDS activity are reported. Molecular studies showed that case 1 has a heterozygous mutation c.1568A > G (p.Y523C) associated with almost totally skewed inactivation of the normal maternal X chromosome, and case 2 has a heterozygous deletion that includes exons 1–4 of IDS (minimal deletion range c.1–103_184del). The multi-exon deletion correlated with early onset of the disease and severe phenotype with intellectual disability, whereas the missense mutation was associated with moderate developmental delay. Although genotype–phenotype correlation in MPS II is difficult, gene deletions seem to correlate with more severe clinical manifestation of the disease. Enzyme replacement therapy (ERT) in these two females resulted in disease stabilization in both. © 2012 Wiley Periodicals, Inc.