title: Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.
abstract: Hunter syndrome (Mucopolysaccharidosis type II, MPS2) is an X-linked recessively inherited disease caused by a deficiency of iduronate 2 sulfatase (IDS). In this study, we investigated mutations of the IDS gene in 25 Korean Hunter syndrome patients. We identified 20 mutations, of which 13 mutations are novel; 6 small deletions (69_88delCCTCGGATCCGAAACGCAGG, 121-123delCTC, 500delA, 877_878delCA, 787delG, 1042_1049delTACAGCAA), 2 insertions (21_22insG, 683_684insC), 2 terminations (529G>T, 637A>T), and 3 missense mutations (353C>A, 779T>C, 899G>T). Moreover, using TaqI or HindIII RFLPs, we found three gene deletions. When the 20 mutations were depicted in a 3-dimensional model of IDS protein, most of the mutations were found to be at structurally critical points that could interfere with refolding of the protein, although they were located in peripheral areas. We hope that these findings will further the understanding of the underlying mechanisms associated with the disease.
authors.affiliation: Clinical Research Center, Samsung Biomedical Research Center, Seoul, Korea.
authors.forename: Chi Hwa
authors.initials: CH
authors.lastname: Kim
authors.forename: Hye Zin
authors.initials: HZ
authors.lastname: Hwang
authors.forename: Seng Mi
authors.initials: SM
authors.lastname: Song
authors.forename: Kyung Hoon
authors.initials: KH
authors.lastname: Paik
authors.forename: Eun Kyung
authors.initials: EK
authors.lastname: Kwon
authors.forename: Kwang Bin
authors.initials: KB
authors.lastname: Moon
authors.forename: Jeong Hyeok
authors.initials: JH
authors.lastname: Yoon
authors.forename: Cheol Kyu
authors.initials: CK
authors.lastname: Han
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007066:Iduronate Sulfatase / Q000737:chemistry / Q000235:genetics*; D007723:Korea / Q000453:epidemiology; D008958:Models, Molecular; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D020836:Protein Structure, Quaternary / Q000235:genetics
chemical_list: D004247:DNA; D007066:Iduronate Sulfatase