Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

  title={Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome},
  author={P. J. Wilson and G. Suthers and D. Callen and E. Baker and P. Nelson and A. Cooper and J. E. Wraith and G. Sutherland and C. P. Morris and J. Hopwood},
  journal={Human Genetics},
  • P. J. Wilson, G. Suthers, +7 authors J. Hopwood
  • Published 2004
  • Biology, Medicine
  • Human Genetics
  • SummaryHunter syndrome is a human X-linked disorder caused by deficiency of the lysosomal exohydrolase iduronate-2-sulphatase (IDS). The consequent accumulation of the mucopolysaccharides dermatan sulphate and heparan sulphate, in the brain and other tissues, often results in death before adulthood. There is, however, a broad spectrum of severity that has been attributed to different mutations of the Hunter syndrome gene. We have used an IDS cDNA clone to localise the IDS gene to Xq28, distal… CONTINUE READING
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