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

@article{Wraith2004TheCP,
  title={The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II — Hunter syndrome)},
  author={J. Wraith and A. Cooper and M. Thornley and P. J. Wilson and P. Nelson and C. P. Morris and J. Hopwood},
  journal={Human Genetics},
  year={2004},
  volume={87},
  pages={205-206}
}
  • J. Wraith, A. Cooper, +4 authors J. Hopwood
  • Published 2004
  • Biology, Medicine
  • Human Genetics
  • SummaryTwo 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
    18 Citations

    Figures and Topics from this paper

    A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing.
    • X. Wei, F. Jin, +4 authors Xin Yi
    • Biology, Medicine
    • Clinica chimica acta; international journal of clinical chemistry
    • 2011
    • 13
    Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
    • 338
    • PDF
    Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)
    • 4
    Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.
    • 3
    • PDF

    References

    SHOWING 1-10 OF 14 REFERENCES
    Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome
    • 34
    Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
    • 217
    • PDF
    An assay for iduronate sulfatase (Hunter corrective factor).
    • 43
    Genetic mapping of new RFLPs at Xq27-q28.
    • 36
    The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.
    • 79