Original Investigations

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. WraithAffiliated withThe Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital
  • , Alan CooperAffiliated withThe Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital
  • , Margaret ThornleyAffiliated withThe Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital
  • , Peter J. WilsonAffiliated withLysosomal Diseases Research Unit, Department of Chemical Pathology, Adelaide Children's Hospital
  • , Paul V. NelsonAffiliated withLysosomal Diseases Research Unit, Department of Chemical Pathology, Adelaide Children's Hospital
  • , C. Phillip MorrisAffiliated withLysosomal Diseases Research Unit, Department of Chemical Pathology, Adelaide Children's Hospital
  • , John J. HopwoodAffiliated withLysosomal Diseases Research Unit, Department of Chemical Pathology, Adelaide Children's Hospital

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.