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The objective of the present study was to estimate the birth prevalence (BP) of MPS in Brazil. MPS diagnosis registered at MPS\u2010Brazil Network and in Instituto Vidas Raras were reviewed. BP was estimated by (a) the number of registered patients born between 1994 and 2015 was divided by the number of live births (LBs), and (b) a sample of 1,000 healthy individuals was tested for the most frequent variant in <jats:italic>IDUA<\/jats:italic> gene in MPS I (p.Trp402Ter) to estimate the frequency of heterozygosity and homozygosity. (a) The BP based on total number of LBs was (cases per 100,000 LBs): MPS overall: 1.25; MPS I: 0.24; MPS II: 0.37; MPS III: 0.21; MPS IV: 0.14; MPS VI: 0.28; MPS VII: 0.02. (b) The overall frequency of p.Trp402Ter was 0.002. Considering the frequency of heterozygotes for the p.Trp402Ter <jats:italic>IDUA<\/jats:italic> variant in the RS state, the frequency of this variant among MPS I patients and the relative frequency of the different MPSs, we estimated the birth prevalence of MPS in total and of each MPS type, as follows: MPS overall: 4.62; MPS I: 0.95; MPS II: 1.32; MPS III: 0.56; MPS IV: 0.57; MPS VI: 1.02; MPS VII: 0.05. This study provided original data about BP and relative frequency of the MPS types, in Brazil, based on the frequency of the commonest <jats:italic>IDUA<\/jats:italic> pathogenic variant and in the records of two large patient databases.<\/jats:p>","DOI":"10.1002\/ajmg.a.61456","type":"journal-article","created":{"date-parts":[[2020,1,11]],"date-time":"2020-01-11T14:09:50Z","timestamp":1578751790000},"page":"469-483","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Estimated birth prevalence of mucopolysaccharidoses in Brazil"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2193-901X","authenticated-orcid":false,"given":"Andressa","family":"Federhen","sequence":"first","affiliation":[{"name":"Postgraduate Program in Child and Adolescent Health Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Pasqualim","sequence":"additional","affiliation":[{"name":"Postraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talita Freitas","family":"de Freitas","sequence":"additional","affiliation":[{"name":"School of Chemistry Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esteban Alberto","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Postraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franciele","family":"Trapp","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"},{"name":"Postgraduate Program in Medical Sciences Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Matte","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Child and Adolescent Health Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Postraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Department of Genetics Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Child and Adolescent Health Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Postraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"},{"name":"Postgraduate Program in Medical Sciences Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"},{"name":"Department of Genetics Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.1.e10"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00277.x"},{"issue":"6","key":"e_1_2_10_4_1","first-page":"1011","article-title":"Cumulative incidence rates of the mucopolysaccharidoses in Germany. 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