title: Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
abstract: Hunter syndrome is a rare, X-linked, recessively inherited disease affecting approximately 1 in 132,000 males. The disease is caused by the inability to degrade dermatan sulphate and heparan sulphate due to mutations in the iduronate-2-sulphatase gene (IDS). The mutations causing the disorder are heterogeneous, ranging from small micro-lesions to gross deletions and inversions. We have screened DNA samples from a panel of 24 unrelated Hunter syndrome patients and have identified mutations in 16 individuals. Six mutations represent novel changes in the gene and these include two single base deletions (1264DC and 1632/3DT); two single base insertions (776/8insC and 1082insT); and two missense mutations--Y264N (914T-->G) and Q465P (1518A-->C). An additional two missense mutations and one splice site alteration identified in this study have been described previously. Southern analysis revealed complete or partial gene deletions in a further 7 patients.
authors.affiliation: Institute of Medical Genetics for Wales, University of Wales College of Medicine, Cardiff, England.
authors.forename: C
authors.initials: C
authors.lastname: Hartog
authors.forename: A
authors.initials: A
authors.lastname: Fryer
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation
chemical_list: D007066:Iduronate Sulfatase