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Mucopolysaccharidosis 2

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1917, Hunter described the syndrome in two brothers. Hunter syndrome is an X-linked recessive form of the mucopolysaccharidosis. Severe and mild (attenuated) forms of the syndrome are caused by the same enzyme deficiency, iduronate-2-sulfatase with consequent increase of the urinary concentration of the glycosaminoglycan (GAG), dermatan sulfate and heparan sulfate. The estimated incidence is approximately 1 in 100,000 births.

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References

  • Al Sawaf, S., Mayatepek, E., & Hoffmann, B. (2008). Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed. Journal of Inherited Metabolic Disease, 31, 473–480.

    Article  CAS  PubMed  Google Scholar 

  • Archer, I. M., Young, I. D., Rees, D. W., et al. (1983). Carrier detection in Hunter syndrome. American Journal of Medical Genetics, 16, 61–69.

    Article  CAS  PubMed  Google Scholar 

  • Archer, I. M., Kingston, H. M., & Harper, P. S. (1984). Prenatal diagnosis of Hunter syndrome. Prenatal Diagnosis, 4, 195–200.

    Article  CAS  PubMed  Google Scholar 

  • Beighton, P. (Ed.). (1993). Mckusick’s hereditable disorders of connective tissue (5th ed.). St. Louis: CV Mosby.

    Google Scholar 

  • Bergstrom, S. K., Quinn, J. J., Greenstein, R., et al. (1994). Long-term follow-up of a patient transplanted for Hunter’s disease type IIB: A case report and literature review. Bone Marrow Transplantation, 14, 653–658.

    CAS  PubMed  Google Scholar 

  • Broadhead, D. M., Kirk, J. M., Burt, A. J., et al. (1986). Full expression of Hunter’s disease in a female with an X-chromosome deletion leading to non-random inactivation. Clinical Genetics, 30, 392–398.

    Article  CAS  PubMed  Google Scholar 

  • Bunge, S., Steglich, C., Zuther, C., et al. (1993). Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Human Molecular Genetics, 2, 1871–1875.

    Article  CAS  PubMed  Google Scholar 

  • Bunge, S., Steglich, C., Lorenz, P., et al. (1994). Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47, XXY male heterozygous for a missense point mutation. Prenatal Diagnosis, 14, 777–780.

    Article  CAS  PubMed  Google Scholar 

  • Burrow, T. A., & Leslie, N. D. (2008). Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. Targets Therapy, 2, 311–320.

    CAS  Google Scholar 

  • Cooper, A., Thornley, M., & Wraith, J. E. (1991). First-trimester diagnosis of Hunter syndrome: Very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus. Prenatal Diagnosis, 11, 731–735.

    Article  CAS  PubMed  Google Scholar 

  • da Silva, E. M. K., Strufaldi, M. W. L., Andriolo, R. B., et al. (2014). Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). Cochrane Database of Systematic Reviews, 2010, 1–8.

    Google Scholar 

  • Defendi, G. L. (2015). Genetics of mucopolysaccharidosis type II. eMedicine from WebMD. Updated 28 July 2015. Available at http://emedicine.medscape.com/article/944723-overview

  • Fensom, A. H., & Benson, P. F. (1994). Recent advances in the prenatal diagnosis of the mucopolysaccharidoses. Prenatal Diagnosis, 14, 1–12.

    Article  CAS  PubMed  Google Scholar 

  • Froissart, R., Blond, J. L., Maire, I., et al. (1993). Hunter syndrome: Gene deletions and rearrangements. Human Mutation, 2, 138–140.

    Article  CAS  PubMed  Google Scholar 

  • Froissart, R., Maire, I., Bonnet, V., et al. (1997). Germline and somatic mosaicism in a female carrier of Hunter disease. Journal of Medical Genetics, 34, 137–140.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Froissart, R., Maire, I., Millat, G., et al. (1998). Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clinical Genetics, 53, 362–368.

    Article  CAS  PubMed  Google Scholar 

  • Froissart, R., Da Silva, I. M., & Maire, I. (2007). Mucopolysaccharidosis type II: An update on mutation spectrum. Acta Paediatrica. Supplement, 96, 71–77.

    Article  Google Scholar 

  • Goldenfum, S. L., Young, E., Michelakakis, H., et al. (1996). Mutation analysis in 20 patients with Hunter disease. Human Mutation, 7, 76–78.

    Article  CAS  PubMed  Google Scholar 

  • Keulemans, J. L., Sinigerska, I., Garritsen, V. H., et al. (2002). Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay. Prenatal Diagnosis, 22, 1016–1021.

    Article  CAS  PubMed  Google Scholar 

  • Kleijer, W. J., Moody, P. D., Liebaers, I., et al. (1979). Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus. Clinical Genetics, 15, 113–117.

    Article  CAS  PubMed  Google Scholar 

  • Lichtenstein, J. R., Bilbrey, G. L., & McKusick, V. A. (1972). Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form. The Johns Hopkins Medical Journal, 131, 425–435.

    CAS  PubMed  Google Scholar 

  • Liebaers, I., & Neufeld, E. (1976). Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts-simplified diagnosis of the Hunter syndrome. Pediatric Research, 10, 733–736.

    Article  CAS  PubMed  Google Scholar 

  • Liebaers, I., Di Natale, P., & Neufeld, E. F. (1977). Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the hunter syndrome. Journal of Pediatrics, 90, 423–425.

    Article  CAS  Google Scholar 

  • Lissens, W., Van Lierde, M., Decaluwe, J., et al. (1988). Prenatal diagnosis of Hunter syndrome using fetal plasma. Prenatal Diagnosis, 8, 59–62.

    Article  CAS  PubMed  Google Scholar 

  • Lissens, W., Seneca, S., & Liebaers, I. (1997). Molecular analysis in 23 Hunter disease families. Journal of Inherited Metabolic Disease, 20, 453–456.

    Article  CAS  PubMed  Google Scholar 

  • Lonardo, F., Di Natale, P., Lualdi, S., et al. (2014). Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation. American Journal of Medical Genetics Part A, 164A, 2627–2632.

    Article  PubMed  Google Scholar 

  • Martin, R. A. (2007). Mucopolysaccharidosis type II. GeneReviews. Updated 6 Nov 2007. Available at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hunter

  • Martin, R., Beck, M., Eng, C., et al. (2008). Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics, 121, e377–e386.

    Article  PubMed  Google Scholar 

  • McKinnis, E. J., Sulzbacher, S., Rutledge, J. C., et al. (1996). Bone marrow transplantation in Hunter syndrome. Journal of Pediatrics, 129, 145–148.

    Article  CAS  PubMed  Google Scholar 

  • Muenzer, J. (1986). Mucopolysaccharidoses. Advances in Pediatrics, 33, 269–302.

    CAS  PubMed  Google Scholar 

  • Nikkel, S. M., Huang, L., Lachman, R., et al. (2014). Whole-exome sequencing expands the phenotype of Hunter syndrome. Clinical Genetics, 86, 172–176.

    Article  CAS  PubMed  Google Scholar 

  • Pannone, N., Gatti, R., Lombardo, C., et al. (1986). Prenatal diagnosis of Hunter syndrome using chorionic villi. Prenatal Diagnosis, 6, 207–210.

    Article  CAS  PubMed  Google Scholar 

  • Rathmann, M., Bunge, S., Beck, M., et al. (1996). Mucopolysaccharidosis type II (Hunter syndrome): Mutation “hot spots” in the iduronate-2-sulfatase gene. American Journal of Human Genetics, 59, 1202–1209.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Roberts, J., Stewart, C., & Kearney, S. (2016). Management of the behavioural manifestations of Hunter syndrome. British Journal of Nursing, 25, 22–30.

    Article  PubMed  Google Scholar 

  • Rotten, M., Ciet, P., van den Biggelaar, R., et al. (2016). Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis. Orphanet Journal of Rare Diseases, 11, 1–6.

    Article  Google Scholar 

  • Shapiro, E. G., Rudser, K., Ahmed, A., et al. (2016). A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Molecular Genetics and Metabolism Reports, 7, 32–39.

    Article  PubMed  PubMed Central  Google Scholar 

  • Timms, K. M., Bondeson, M. L., Ansari-Lari, M. A., et al. (1997). Molecular and phenotypic variation in patients with severe Hunter syndrome. Human Molecular Genetics, 6, 479–486.

    Article  CAS  PubMed  Google Scholar 

  • Timms, K. M., Edwards, F. J., Belmont, J. W., et al. (1998). Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. Journal of Medical Genetics, 35, 646–649.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Vafiadaki, E., Cooper, A., Heptinstall, L. E., et al. (1998). Mutation analysis in 57 unrelated patients with MPS II (Hunter’s disease). Archives of Disease in Childhood, 79, 237–241.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wraith, J. E., Scarpa, M., Beck, M., et al. (2008). Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy. European Journal of Pediatrics, 167, 267–277.

    Article  CAS  PubMed  Google Scholar 

  • Yoskovitch, A., Tewfik, T. L., Brouillette, R. T., et al. (1998). Acute airway obstruction in Hunter syndrome. International Journal of Pediatric Otorhinolaryngology, 44, 273–278.

    Article  CAS  PubMed  Google Scholar 

  • Young, I. D., & Harper, P. S. (1979). Long-term complications in Hunter’s syndrome. Clinical Genetics, 16, 125–132.

    Article  CAS  PubMed  Google Scholar 

  • Young, I. D., & Harper, P. S. (1981). Psychosocial problems in Hunter’s syndrome. Child: Care, Health and Development, 7, 201–209.

    CAS  Google Scholar 

  • Young, I. D., & Harper, P. S. (1982). Mild form of Hunter’s syndrome: Clinical delineation based on 31 cases. Archives of Disease in Childhood, 57, 828–836.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Young, I. D., & Harper, P. S. (1983). The natural history of the severe form of Hunter’s syndrome: A study based on 52 cases. Developmental Medicine and Child Neurology, 25, 481–489.

    Article  CAS  PubMed  Google Scholar 

  • Young, I. D., Harper, P. S., Archer, I. M., et al. (1982a). A clinical and genetic study of Hunter’s syndrome. 1. Heterogeneity. Journal of Medical Genetics, 19, 401–407.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Young, I. D., Harper, P. S., Newcombe, R. G., et al. (1982b). A clinical and genetic study of Hunter’s syndrome. 2. Differences between the mild and severe forms. Journal of Medical Genetics, 19, 408–411.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Zlotogora, J., & Bach, G. (1984). Heterozygote detection in Hunter syndrome. American Journal of Medical Genetics, 17, 661–665.

    Article  CAS  PubMed  Google Scholar 

  • Zlotogora, J., & Bach, G. (1986). Hunter syndrome: Prenatal diagnosis in maternal serum. American Journal of Human Genetics, 38, 253–260.

    CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2016). Mucopolysaccharidosis 2. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_162-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_162-2

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  • Online ISBN: 978-1-4614-6430-3

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