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

@article{Wraith1991TheCP,
  title={The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II — Hunter syndrome)},
  author={James Edward Wraith and Alan H Cooper and Margaret J. Thornley and Peter J. Wilson and Paul V. Nelson and C Phillip Morris and John J. Hopwood},
  journal={Human Genetics},
  year={1991},
  volume={87},
  pages={205-206}
}
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… CONTINUE READING

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