Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II

M. Beck, C. Steglich, B. Zabel, N. Dahl, E. Schwinger, J. J. Hopwood, A. Gal

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10 Citations (Scopus)

Abstract

Hunter syndrome is an X-linked mucopolysaccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome. A submicroscopic deletion has been detected that spans the IDS gene as well as DXS466 and DXS304, 2 loci mapped probably not more than 900 kb from the IDS locus. A detailed clinical description of the patient is provided and his phenotype is compared to that of other patients with IDS deletion described recently. By following the segregation of a restriction fragment length polymorphism at the IDS locus in the patient's family, our data suggest that the deletion occurred in the germ cells of the patient's grandfather.

Original languageEnglish
Pages (from-to)100-103
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume44
Issue number1
DOIs
Publication statusPublished or Issued - 1992

Keywords

  • carrier detection
  • deletion
  • DXS304
  • DXS466
  • Hunter syndrome
  • iduronate-2-sulfatase
  • mucopolysaccharidosis type II
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

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