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There are more than 300 disease\u2010causing variants reported in the\n                    <jats:italic>IDUA<\/jats:italic>\n                    gene, and the mutational profile varies considerably worldwide. In this study, we performed molecular analysis on 119 MPS I patients, representing the largest Brazilian cohort studied so far. Forty\u2010seven different mutations were identified in our sample, and 13 of them are newly described: c.48delG, c.78delC, c.159\u201023_159\u20101del23, p.Gln125Ter, p.Trp175Ter, c.590\u20106ins4G, c.763delC, c.973\u20101G&gt;A, p.Asp349Glu, p.Asn350Lys, p.Lys384Asn, c.1403\u201012_1403\u20104del9, and p.Lys546Ter. In silico analysis of novel variants suggests they are possibly pathogenic, supporting previous biochemical and clinical diagnoses. Among recurrent mutations, p.Trp402Ter and p.Pro533Arg are the most frequent in Brazil, found in 42.4% and 16% of the alleles, respectively. These results reveal the great allelic heterogeneity of\n                    <jats:italic>IDUA<\/jats:italic>\n                    variants in Brazilian patients. Unraveling the genetic profile of MPS I patients may improve the diagnosis and management of this rare disease.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70144","type":"journal-article","created":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T05:55:55Z","timestamp":1769406955000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil"],"prefix":"10.1002","volume":"49","author":[{"given":"Carlos Robson Costa","family":"Cruz","sequence":"first","affiliation":[{"name":"Cell, Tissue and Gene Laboratory Experimental Research Center\u2014Hospital de Clinicas de Porto Alegre (CTG\/CPE\u2010HCPA)  Porto Alegre RS Brazil"},{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande Do Sul (PPGBM\/UFRGS)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0554-0295","authenticated-orcid":false,"given":"Edina","family":"Poletto","sequence":"additional","affiliation":[{"name":"Cell, Tissue and Gene Laboratory Experimental Research Center\u2014Hospital de Clinicas de Porto Alegre (CTG\/CPE\u2010HCPA)  Porto Alegre RS Brazil"},{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande Do Sul (PPGBM\/UFRGS)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa Mota","family":"Silva","sequence":"additional","affiliation":[{"name":"Cell, Tissue and Gene Laboratory Experimental Research Center\u2014Hospital de Clinicas de Porto Alegre (CTG\/CPE\u2010HCPA)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6250-9609","authenticated-orcid":false,"given":"Gabriela","family":"Pasqualim","sequence":"additional","affiliation":[{"name":"Genetics Laboratory, Institute of Biological Sciences Federal University of Rio Grande (FURG)  Rio Grande Brazil"},{"name":"Postgraduate Program in Health Sciences (PPGCS) Federal University of Rio Grande (FURG)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice Brinckmann Oliveira","family":"Netto","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande Do Sul (PPGBM\/UFRGS)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Leistner","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina","family":"Brusius\u2010Facchin","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA)  Porto Alegre RS Brazil"},{"name":"Instituto Gen\u00e9tica Para Todos (IGPT)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franciele Barbosa","family":"Trapp","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Matte","sequence":"additional","affiliation":[{"name":"Cell, Tissue and Gene Laboratory Experimental Research Center\u2014Hospital de Clinicas de Porto Alegre (CTG\/CPE\u2010HCPA)  Porto Alegre RS Brazil"},{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande Do Sul (PPGBM\/UFRGS)  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande Do Sul (PPGBM\/UFRGS)  Porto Alegre RS Brazil"},{"name":"BioDiscovery Laboratory and Clinical Research Group in Medical Genetics Hospital de Clinicas de Porto Alegre (HCPA)  Porto Alegre RS Brazil"},{"name":"Dasa Genomica  Sao Paulo Sao Paulo Brazil"},{"name":"Casa dos Raros  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilherme","family":"Baldo","sequence":"additional","affiliation":[{"name":"Cell, Tissue and Gene Laboratory Experimental Research Center\u2014Hospital de Clinicas de Porto Alegre (CTG\/CPE\u2010HCPA)  Porto Alegre RS Brazil"},{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande Do Sul (PPGBM\/UFRGS)  Porto Alegre RS Brazil"},{"name":"Casa dos Raros  Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,25]]},"reference":[{"key":"e_1_2_12_2_1","volume-title":"Em the Online Metabolic and Molecular Bases of Inherited Disease","author":"Neufeld E. 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