Human Genetics

, Volume 87, Issue 2, pp 205–206

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II — Hunter syndrome)

  • James E. Wraith
  • Alan Cooper
  • Margaret Thornley
  • Peter J. Wilson
  • Paul V. Nelson
  • C. Phillip Morris
  • John J. Hopwood
Original Investigations

DOI: 10.1007/BF00204183

Cite this article as:
Wraith, J.E., Cooper, A., Thornley, M. et al. Hum Genet (1991) 87: 205. doi:10.1007/BF00204183

Summary

Two patients with a complete deletion of the iduronate-2-sulphatase (IDS) gene are described. In both patients, the resulting phenotype was that of very severe Hunter syndrome (mucopolysaccharidosis II). In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient and ptosis in the other. It is speculated that loss of adjacent loci may contribute to the unusual findings and that the severe features present in both patients may represent contiguous gene syndromes. Further analysis of IDS cDNA from other patients with Hunter's syndrome may eventually enable phenotype to be predicted more accurately.

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • James E. Wraith
    • 1
  • Alan Cooper
    • 1
  • Margaret Thornley
    • 1
  • Peter J. Wilson
    • 2
  • Paul V. Nelson
    • 2
  • C. Phillip Morris
    • 2
  • John J. Hopwood
    • 2
  1. 1.The Willink Biochemical Genetics UnitRoyal Manchester Children's HospitalPendlebury, ManchesterUK
  2. 2.Lysosomal Diseases Research Unit, Department of Chemical PathologyAdelaide Children's HospitalNorth AdelaideAustralia