Pediatric Neurology
Volume 32, Issue 4 , Pages 270-272 , April 2005

Mucopolysaccharidosis type II in females: Case report and review of literature

  • Karin Tuschl, MD

      Affiliations

    • Department of General Pediatrics, University Children’s Hospital Vienna, Austria
    • ,
  • Andreas Gal, PhD

      Affiliations

    • Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany
    • ,
  • Eduard Paschke, PhD

      Affiliations

    • University Children’s Hospital Graz, Austria
    • ,
  • Susanne Kircher, MD

      Affiliations

    • Institute of Medical Chemistry, University of Vienna, Austria
    • ,
  • Olaf A. Bodamer, MD

      Affiliations

    • Department of General Pediatrics, University Children’s Hospital Vienna, Austria
    • Corresponding Author InformationCommunications should be addressed to: Dr. Bodamer; Department of General Pediatrics; Biochemical Genetics and National Neonatal Screening Laboratories; University Children’s Hospital; Währinger Gürtel 18-20; A-1090 Vienna, Austria

Received 19 May 2004 ,Accepted 21 October 2004.

References 

  1. Neufeld FN , Muenzer J . The mucopolysaccharidosis . In:  Scriver CR ,  Beaudet AL ,  Valle D ,  Sly WS editor. The metabolic and molecular basis of inherited disease . 8th ed.. New York: McGraw-Hill; 2001;p. 3421–3452
  2. Froissart R , Moreira da Silva I , Guffon N , Bozon D , Maire I . Mucopolysaccharidosis type II-genotype/phenotype aspects . Acta Paediatr Suppl . 2002;91:82–87
  3. Kroepfl T , Milos I , Paul K , Plecko B , Paschke E . The frequency of common mutations among patients with mucopolysaccharidosis type I, II and IIIA diagnosed in Austria over the last 17 years . Clin Genet . 2001;60:393–394
  4. Boyd D , Fraser NJ . Methylation patterns at the hypervariable X-chromosome locus DXS 255 (Correlation with X-inactivation status) . Genomics . 1990;7:182–187
  5. Neufeld EF , Liebaers I , Epstein CJ , Yatziv S , Milunsky A , Migeon BR . The Hunter syndrome in females (Is there an autosomal recessive form of iduronate sulfatase deficiency?) . Am J Hum Genet . 1977;29:455–461
  6. Mossman J , Blunt S , Stephens R , Jones EE , Pembrey M . Hunter’s disease in a girl (Association with X:5 chromosomal translocation disrupting the Hunter gene) . Arch Dis Child . 1983;58:911–915
  7. Broadhead DM , Kirk JM , Burt AJ , Gupta V , Ellis PM , Besley GT . Full expression of Hunter’s disease in a female with an X-chromosome deletion leading to non-random inactivation . Clin Genet . 1986;30:392–398
  8. Clarke JT , Greer WL , Strasberg PM , Pearce RD , Skomorowski MA , Ray PN . Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl . Am J Hum Genet . 1991;49:289–297
  9. Winchester B , Young E , Geddes S , et al.   Female twin with Hunter disease due to non random inactivation of the X-chromosome (A consequence of twinning) . Am J Med Genet . 1992;44:834–838
  10. Sukegawa K , Song XQ , Masuno M , et al.   Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele . Hum Mut . 1997;10:361–367
  11. Sukegawa K , Matsuzaki T , Fukuda S , et al.   Brother/sister siblings affected with Hunter disease (Evidence for skewed X chromosome inactivation) . Clin Genet . 1998;53:96–101
  12. Cudry S , Tigaud I , Froissart R , Bonnet V , Maire I , Bozon D . MPS II in females (Molecular basis of two different cases) . J Med Genet . 2000;37:E29

PII: S0887-8994(04)00559-4

doi: 10.1016/j.pediatrneurol.2004.10.009

Pediatric Neurology
Volume 32, Issue 4 , Pages 270-272 , April 2005

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