{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T20:33:58Z","timestamp":1781555638804,"version":"3.54.5"},"reference-count":54,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2019,12,23]],"date-time":"2019-12-23T00:00:00Z","timestamp":1577059200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hunter syndrome (mucopolysaccharidosis II; MPS II) is caused by a defect of the iduronate-2-sulfatase (IDS) gene. Few studies have reported integrated mutation data of Taiwanese MPS II phenotypes. In this study, we summarized genotype and phenotype correlations of confirmed MPS II patients and asymptomatic MPS II infants in Taiwan. Regular polymerase chain reaction and DNA sequencing were used to identify genetic abnormalities of 191 cases, including 51 unrelated patients with confirmed MPS II and 140 asymptomatic infants. IDS activity was analyzed in individual novel IDS variants using in vitro expression studies. Nineteen novel mutations were identified, in which the percentages of IDS activity of the novel missense mutations c.137A&gt;C, c.311A&gt;T, c.454A&gt;C, c.797C&gt;G, c.817C&gt;T, c.998C&gt;T, c.1106C&gt;G, c.1400C&gt;T, c.1402C&gt;T, and c.1403G&gt;A were significantly decreased (p &lt; 0.001), c.254C&gt;T and c.1025A&gt;G were moderately decreased (p &lt; 0.01), and c.851C&gt;T was slightly decreased (p &lt; 0.05) comparing with normal enzyme activity. The activities of the other six missense mutations were reduced but were insignificant. The results of genomic studies and their phenotypes were highly correlated. A greater understanding of the positive correlations may help to prevent the irreversible manifestations of Hunter syndrome, particularly in infants suspected of having asymptomatic MPS II. In addition, urinary glycosaminoglycan assay is important to diagnose Hunter syndrome since gene mutations are not definitive (could be non-pathogenic).<\/jats:p>","DOI":"10.3390\/ijms21010114","type":"journal-article","created":{"date-parts":[[2019,12,23]],"date-time":"2019-12-23T04:23:01Z","timestamp":1577074981000},"page":"114","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang-Yu","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, New Taipei City 25245, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40402, Taiwan"},{"name":"Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru-Yi","family":"Tu","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Schu-Rern","family":"Chern","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Ting","family":"Lo","sequence":"additional","affiliation":[{"name":"Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sisca","family":"Fran","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang-Jie","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Fa","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-Yu","family":"Tsai","sequence":"additional","affiliation":[{"name":"Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Hui","family":"Chang","sequence":"additional","affiliation":[{"name":"Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung-Lin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Hsinchu 30071, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming University, Taipei 11221, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, New Taipei City 25245, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 11219, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-2092","authenticated-orcid":false,"given":"Chih-Kuang","family":"Chuang","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"College of Medicine, Fu-Jen Catholic University, New Taipei City 24205, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,12,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/S0957-5839(97)80195-9","article-title":"Lysosomal disorders","volume":"7","author":"Besley","year":"1997","journal-title":"Curr. 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