{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T11:43:00Z","timestamp":1788781380914,"version":"build-2803163510"},"reference-count":76,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,4,11]],"date-time":"2018-04-11T00:00:00Z","timestamp":1523404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003810","name":"Hospital de Cl\u00ednicas de Porto Alegre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003810","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>Mucopolysaccharidosis type I (MPS I) is a rare disorder caused by deleterious sequence variants in the \u03b1\u2010L\u2010iduronidase (<jats:italic>IDUA<\/jats:italic>) gene. More than 200 pathogenic variants have been described so far, but their frequencies have not yet been analyzed on a worldwide scale. To address this, we analyzed the genotypes of MPS I patients from 35 published studies papers. The most common pathogenic variant observed was p.Trp402Ter. With frequencies of up to 63%, it was the major allele in most European countries, America and Australia. The variant p.Gln70Ter was also frequent; it was found mainly in Northern and Eastern Europe. The most frequent variant in North African countries was p.Pro533Arg; in Morocco, it represented more than 90% of mutant alleles. Variants observed in East Asians were not found in Western populations, including c.1190\u20101G&gt;A, p.Ala79Val, p.Leu346Arg and c.613_617dupTGCTC. Conversely, p.Trp402Ter and p.Pro533Arg were not found in patients from East Asia. In conclusion, the most common pathogenic <jats:italic>IDUA<\/jats:italic> variant in MPS I patients are p.Trp402Ter, p.Gln70Ter and p.Pro533Arg. Knowledge about the genetic background of MPS I for each population is essential when developing new genotype\u2010targeted therapies, as well as to enable faster genetic analysis and improve patient management.<\/jats:p>","DOI":"10.1111\/cge.13224","type":"journal-article","created":{"date-parts":[[2018,2,2]],"date-time":"2018-02-02T15:46:35Z","timestamp":1517586395000},"page":"95-102","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Worldwide distribution of common <i>IDUA<\/i> pathogenic variants"],"prefix":"10.1111","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0554-0295","authenticated-orcid":false,"given":"E.","family":"Poletto","sequence":"first","affiliation":[{"name":"Gene Therapy Center Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"},{"name":"Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre 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