Hum Genet. 1991 Jun;87(2):205-6.

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

Wraith JE, Cooper A, Thornley M, Wilson PJ, Nelson PV, Morris CP, Hopwood JJ.

Source

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK.

Abstract

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.

PMID:: 1906048; [PubMed - indexed for MEDLINE]

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Iduronate Sulfatase

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Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. [Am J Med Genet. 1992]
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
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Review Hunter disease in the Spanish population: molecular analysis in 31 families.
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Cited by 4 PubMed Central articles

Review Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. [Eur J Pediatr. 2008]
Review Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.
Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT, Zeman J. Eur J Pediatr. 2008 Mar; 167(3):267-77. Epub 2007 Nov 23.
Hyposulfatemia, growth retardation, reduced fertility, and seizures in mice lacking a functional NaSi-1 gene. [Proc Natl Acad Sci U S A. 2003]
Hyposulfatemia, growth retardation, reduced fertility, and seizures in mice lacking a functional NaSi-1 gene.
Dawson PA, Beck L, Markovich D. Proc Natl Acad Sci U S A. 2003 Nov 11; 100(23):13704-9. Epub 2003 Oct 24.
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). [Arch Dis Child. 1998]
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).
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