title: The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
abstract: Mucopolysaccharidosis type II (Hunter syndrome; OMIM 309900) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13). Different alterations at the IDS locus, mostly missense mutations, have been demonstrated, by expression study, as deleterious, causing significant consequences on the enzyme function or stability. In the present study we report on the results of the transient expression of the novel K347T, 533delTT, N265I and the already described 473delTCC (previously named DeltaS117) mutations in the COS 7 cells proving their functional consequence on IDS activity. This type of information is potentially useful for genotype-phenotype correlation, prognosis and possible therapeutic intervention.
authors.affiliation: Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, Istituto G. Gaslini, Genoa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Bonuccelli
authors.forename: P
authors.initials: P
authors.lastname: Di Natale
authors.forename: F
authors.initials: F
authors.lastname: Corsolini
authors.forename: G
authors.initials: G
authors.lastname: Villani
authors.forename: S
authors.initials: S
authors.lastname: Regis
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
mesh_terms: D000818:Animals; D019556:COS Cells; D018076:DNA, Complementary / Q000096:biosynthesis; D006801:Humans; D007066:Iduronate Sulfatase / Q000096:biosynthesis / Q000235:genetics*; D015151:Immunoblotting; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D014162:Transfection
chemical_list: D018076:DNA, Complementary; D007066:Iduronate Sulfatase