{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T02:17:43Z","timestamp":1791339463918,"version":"4.3.1"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,5,26]],"date-time":"2016-05-26T00:00:00Z","timestamp":1464220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["54\/5\/2008\u2010BMS"],"award-info":[{"award-number":["54\/5\/2008\u2010BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004843","name":"Manipal University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004843","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,12]]},"abstract":"Mucopolysaccharidoses (MPS<\/jats:styled-content>), a subgroup of lysosomal storage disorders, are caused due to deficiency of specific lysosomal enzyme involved in catabolism of glycosaminoglycans. To date more than 200 pathogenic variants in the alpha\u2010l<\/jats:sc>\u2010iduronidase (IDUA<\/jats:styled-content><\/jats:italic>) for MPS<\/jats:styled-content> I and \u223c500 pathogenic variants in the iduronate\u20102\u2010sulphatase (IDS<\/jats:styled-content><\/jats:italic>) for MPS II<\/jats:styled-content> have been reported worldwide. The mutation spectrum of MPS<\/jats:styled-content> type I and MPS<\/jats:styled-content> type II<\/jats:styled-content> disorders in Indian population is not characterized yet. In this study, we carried out clinical, biochemical, molecular and in silico<\/jats:italic> analyses to establish the mutation spectrum of MPS<\/jats:styled-content> I and MPS II<\/jats:styled-content> in the Indian population. We conducted molecular analysis for 60 MPS<\/jats:styled-content>\u2010affected patients [MPS<\/jats:styled-content> I (n<\/jats:italic>\u2009=\u200930) (Hurler syndrome\u2009=\u200917, Hurler\u2013Scheie syndrome\u2009=\u200913), and MPS II<\/jats:styled-content> (n<\/jats:italic>\u2009=\u200930) (severe\u2009=\u200918, attenuated\u2009=\u200912)] and identified a total of 44 [MPS<\/jats:styled-content> I (n<\/jats:italic>\u2009=\u200922) and MPS II<\/jats:styled-content> (n<\/jats:italic>\u2009=\u200922)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants. A total of 20 [MPS<\/jats:styled-content> I (n<\/jats:italic>\u2009=\u200914), and MPS II<\/jats:styled-content> (n<\/jats:italic>\u2009=\u20096)] novel pathogenic sequence variants were identified in our patient cohort. We found that 32% of pathogenic variants detected in IDUA<\/jats:styled-content><\/jats:italic> were recurrent and 25% in MPS II<\/jats:styled-content>. This is the first study revealing the mutation spectrum of MPS<\/jats:styled-content> I and MPS II<\/jats:styled-content> patients in the Indian population.<\/jats:p>","DOI":"10.1111\/cge.12795","type":"journal-article","created":{"date-parts":[[2016,5,5]],"date-time":"2016-05-05T08:06:46Z","timestamp":1462435606000},"page":"496-508","source":"Crossref","is-referenced-by-count":28,"title":["Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II<\/scp>"],"prefix":"10.1111","volume":"90","author":[{"given":"A.","family":"Uttarilli","sequence":"first","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"},{"name":"Graduate Studies Manipal University Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Ranganath","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA 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Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.D.","family":"Puri","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics Sir Ganga Ram Hospital New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"},{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Danda","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Christian Medical College and Hospital Vellore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.H.","family":"Sankar","sequence":"additional","affiliation":[{"name":"Genetics Clinic, Department of Pediatrics SAT Hospital, 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