{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:16:19Z","timestamp":1790806579438,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T00:00:00Z","timestamp":1679443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mucopolysaccharidosis type II (MPS II) is an X\u2010linked recessive lysosomal storage disease caused by a disease\u2010associated variant in the\n                    <jats:italic>IDS<\/jats:italic>\n                    gene, which encodes iduronate 2\u2010sulfatase (IDS). We aimed to characterize the clinical characteristics and genotypes of the largest cohort of Chinese patients with MPS II and so gain a deeper understanding of natural disease progression. Patients with confirmed MPS II and without treatment were included. The disease was classified as severe in patients with neurological impairment, and as attenuated in patients aged &gt;6\u2009years without neurological impairment. Of the 201 male patients, 78.1% had severe MPS II. Cognitive regression occurred before age 6\u2009years in 94.3% of patients. Of 122\n                    <jats:italic>IDS<\/jats:italic>\n                    variants identified, 37 were novel. Among the large gene alteration types identified, only the frequency of\n                    <jats:italic>IDS\u2010IDS2<\/jats:italic>\n                    recombination was significantly higher in severe versus attenuated MPS II (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00.032). Some identified point variants could inform the understanding of genotype\u2013phenotype correlations. In conclusion, this study showed that classification of the disease as attenuated should only be made in patients aged &gt;6\u2009years. Our findings expand the understanding of the genotype\u2013phenotype relationship, inform the diagnostic process, and provide an indication of the likely prognosis.\n                  <\/jats:p>","DOI":"10.1111\/cge.14329","type":"journal-article","created":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T03:08:55Z","timestamp":1679454535000},"page":"655-662","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type\n                    <scp>II<\/scp>\n                    in China: A retrospective, observational study"],"prefix":"10.1111","volume":"103","author":[{"given":"Lin","family":"Zhong","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine  1665 Kongjiang Road Shanghai 200092 People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolan","family":"Gao","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine  1665 Kongjiang Road Shanghai 200092 People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Wang","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine  1665 Kongjiang Road Shanghai 200092 People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjuan","family":"Qiu","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine  1665 Kongjiang Road Shanghai 200092 People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianshu","family":"Han","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine  1665 Kongjiang Road Shanghai 200092 People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefan","family":"Gu","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine  1665 Kongjiang Road Shanghai 200092 People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8241-325X","authenticated-orcid":false,"given":"Huiwen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research Shanghai Jiao Tong University School of Medicine  1665 Kongjiang Road Shanghai 200092 People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21041258"},{"key":"e_1_2_11_3_1","article-title":"Mucopolysaccharidosis type II","author":"Scarpa M","year":"2007","journal-title":"Gene 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