title: Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
abstract: Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total 19 unrelated MPS II patients of different ethnic origin and identified 19 different IDS mutations, 9 of which were novel and unique. SSCP analysis followed by DNA sequencing revealed four novel missense mutations: S143F, associated with the 562C-->T polymorphism, C184W, D269V and Y348H. Two novel nonsense mutations were found: Y103X (433C-->A) and Y234X (826C-->G). In two patients two novel minor insertions (42linsA and 499insA) were identified. In one patient a complete IDS deletion was found, extending from locus DXS1185 to locus DXS466).
authors.affiliation: Beijer Laboratory, Department of Genetics and Pathology, Unit of Medical Genetics, Uppsala University, Box 589, S-751 23 Uppsala, Sweden.
authors.forename: S L
authors.initials: SL
authors.lastname: Karsten
authors.forename: E
authors.initials: E
authors.lastname: Voskoboeva
authors.forename: B M
authors.initials: BM
authors.lastname: Carlberg
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: T
authors.initials: T
authors.lastname: Tsnnesen
authors.forename: U
authors.initials: U
authors.lastname: Pettersson
authors.forename: M L
authors.initials: ML
authors.lastname: Bondeson
mesh_terms: D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D016532:Mucopolysaccharidosis II / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: D007066:Iduronate Sulfatase