{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T03:27:26Z","timestamp":1789442846820,"version":"build-2803163510"},"reference-count":29,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,5,20]],"date-time":"2008-05-20T00:00:00Z","timestamp":1211241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Molecular defects in the gene encoding the enzyme iduronate\u20102\u2010sulfatase (IDS) result in Hunter disease (mucopolysaccharidosis type II, MPS II). To determine the molecular basis of MPS II in Thailand, the <jats:italic>IDS<\/jats:italic> gene was analysed in 20 Thai patients with Hunter syndrome from 18 unrelated families. A total of 19 different mutations, including 9 missense mutations, 3 nonsense mutations, 3 splice site alterations, 1 deletion, 2 indels, and 1 rearrangement were identified, 8 of which were novel (p.R101C, p.D148V, p.G224A, p.K227E, p.E254X, p.W337X, c.440_442delinsTT and c.720_731delinsTTTCAGATGTTCTCCCCAG). Evaluation of the IDS activity of two hemizygous variants identified in the same patient, p.R101C and p.R468Q, by expression of IDS with the individual mutations in COS 7 cells indicated that only the p.R468Q mutation affected IDS protein activity. Two exonic mutations, c.257C&gt;T (p.P86L) and c.418G&gt;A, were found to activate multiple cryptic splice sites, resulting in aberrantly spliced transcripts. Thus, MPS II in Thailand is caused by a diverse set of defects affecting both IDS protein production and activity.<\/jats:p>","DOI":"10.1007\/s10545-008-0876-z","type":"journal-article","created":{"date-parts":[[2008,5,23]],"date-time":"2008-05-23T14:09:06Z","timestamp":1211551746000},"page":"303-311","source":"Crossref","is-referenced-by-count":22,"title":["Molecular analysis of the iduronate\u20102\u2010sulfatase gene in Thai patients with Hunter syndrome"],"prefix":"10.1002","volume":"31","author":[{"given":"S.","family":"Keeratichamroen","sequence":"first","affiliation":[{"name":"Laboratory of Biochemistry Chulabhorn Research Institute Bangkok 10210 Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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