{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:06:42Z","timestamp":1790172402895,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100008257","name":"Tarbiat Modares University","doi-asserted-by":"publisher","award":["3344\/314"],"award-info":[{"award-number":["3344\/314"]}],"id":[{"id":"10.13039\/501100008257","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by a deficiency of \u03b1\u2010\n                      <jats:sc>l<\/jats:sc>\n                      \u2010iduronidase (IDUA) encoded by the\n                      <jats:italic>IDUA<\/jats:italic>\n                      gene. We examined the mutation spectrum of the\n                      <jats:italic>IDUA<\/jats:italic>\n                      gene to explain the clinical, biochemical, and molecular features in 21 Iranian patients with MPSI.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Sanger sequencing was used to measure the\n                      <jats:italic>IDUA<\/jats:italic>\n                      gene sequence in the coding region and exon\u2010intron boundaries. We recorded the clinical findings of studied patients at the first diagnosis of disease and then during the treatment and follow\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Five different missense disease\u2010causing mutations were determined in our patient groups, indicating 90.48% of detection rate. The most widespread mutation was the p.Y109H, occurring in 15.625% of all alleles, which was reported for the first time in our study. Other frequent mutations were as follows: p.Ser157Pro (12.5%), p.Gly84Arg (12.5%), p.Asp257His (9.375%), and p.Asp301Glu (9.375%). Three ones of them were new missense mutations: p.Ser157Pro, p.Asp257His, and p.Asp301Glu.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      The results of this study explain the different spectrum of\n                      <jats:italic>IDUA<\/jats:italic>\n                      gene mutations in our patients with MPSI. We introduced here 32 different variants including four new variants: p.Y109H (15.625%), p.S157P (12.5%), p.D257H (9.375%), and p.D301E (9.375%). In this series, there was no relationship between the happening of clinical features and genotype variations and biochemical findings.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.22963","type":"journal-article","created":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T11:04:24Z","timestamp":1565089464000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I"],"prefix":"10.1002","volume":"33","author":[{"given":"Mohammad","family":"Taghikhani","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry, Faculty of Medical Sciences Tarbiat Modares University Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shohreh","family":"Khatami","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Pasteur Institute of Iran Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4766-0423","authenticated-orcid":false,"given":"Mohammad","family":"Abdi","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Research Center Research Institute for Health Development Kurdistan University of Medical Sciences Sanandaj Iran"},{"name":"Department of Clinical Biochemistry, Faculty of Medicine Kurdistan University of Medical Sciences Sanandaj Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Said","family":"Hakhamaneshi","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, Faculty of Medicine Kurdistan University of Medical Sciences Sanandaj Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Reza","family":"Alaei","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Faculty of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Zamanfar","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Faculty of Medicine Mazandaran University of Medical Sciences Sari Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahim","family":"Vakili","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Imam Reza Hospital Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,6]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"ClarkeLA.Mucopolysaccharidosis type I. In: GeneReviews at GeneTests: medical genetics information resource (database online). Copyright University of Washington Seattle;1993."},{"issue":"4","key":"e_1_2_11_3_1","first-page":"CD009354","article-title":"Enzyme replacement therapy with laronidase (Aldurazyme((R))) for treating mucopolysaccharidosis type I","volume":"1","author":"Jameson E","year":"2016","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.05.016"},{"issue":"2","key":"e_1_2_11_5_1","first-page":"80","article-title":"Mucopolysaccharidoses \u2010 clinical spectrum and frequency of different types","volume":"27","author":"Cheema HA","year":"2017","journal-title":"J Coll Physicians Surg Pak"},{"issue":"5","key":"e_1_2_11_6_1","first-page":"802","article-title":"Chromosomal localization of the human alpha\u2010l\u2010iduronidase gene (IDUA) to 4p16.3","volume":"47","author":"Scott HS","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90053-U"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13224"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12291-014-0444-2"},{"issue":"4","key":"e_1_2_11_10_1","first-page":"39","article-title":"Validation of urinary glycosaminoglycans in Iranian patients with mucopolysaccharidase type I: the effect of urine sedimentation characteristics","volume":"8","author":"Abdi M","year":"2014","journal-title":"Iran J Child Neurol"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3906\/sag-1411-160"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.06.001"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1746-1596-6-39"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0319-x"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12795"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms17050743"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2017.08.017"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12280"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21479"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23301"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0678-1"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.3052"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(99)01761-8"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.22963","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.22963","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.22963","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:40:45Z","timestamp":1790170845000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.22963"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,6]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1002\/jcla.22963"],"URL":"https:\/\/doi.org\/10.1002\/jcla.22963","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,6]]},"assertion":[{"value":"2019-03-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e22963"}}