title: The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).
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.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK.
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
authors.forename: A
authors.initials: A
authors.lastname: Cooper
authors.forename: M
authors.initials: M
authors.lastname: Thornley
authors.forename: P J
authors.initials: PJ
authors.lastname: Wilson
authors.forename: P V
authors.initials: PV
authors.lastname: Nelson
authors.forename: C P
authors.initials: CP
authors.lastname: Morris
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
mesh_terms: D015139:Blotting, Southern; D002648:Child; D002872:Chromosome Deletion; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype
chemical_list: D007066:Iduronate Sulfatase