{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T05:11:20Z","timestamp":1767071480617,"version":"3.48.0"},"reference-count":38,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T00:00:00Z","timestamp":1766707200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"CNPq","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002322","name":"CAPES","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004263","name":"FAPERGS","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Background: Mucopolysaccharidosis type IIIC (MPS IIIC) is a rare lysosomal storage disorder caused by pathogenic variants in the HGSNAT gene. Data from large patient cohorts remain scarce, particularly in Latin America. Methods: We retrospectively analyzed clinical, biochemical, and genetic data from patients diagnosed with MPS IIIC through the MPS Brazil Network. Diagnosis was based on reduced activity of acetyl-CoA:\u03b1-glucosaminide N-acetyltransferase (HGSNAT), elevated urinary glycosaminoglycans (uGAGs), and\/or molecular genetics tests. Results: A total of 101 patients were confirmed with MPS IIIC, representing one of the largest cohorts worldwide. Females accounted for 60% of cases. The mean age at symptom onset was 5.4 \u00b1 3.9 years, while the mean age at diagnosis was 11.7 \u00b1 6.9 years, reflecting a 6-year diagnostic delay. Most patients initially presented with developmental delay (82%) and facial dysmorphism (80%), whereas behavioral manifestations were less frequently identified (25%), suggesting a milder phenotype than previously reported. Genetic information was available for 28% of patients, showing recurrent alleles (c.372-2A&gt;G, c.252dupT) and several novel mutations, which expand the mutational spectrum of the disease. Genotype\u2013phenotype similarities with Portuguese, Italian, and Chinese cases suggest shared ancestry contributions. Regional differences included earlier diagnoses in the North of Brazil and high consanguinity rates in the Northeast region. Conclusions: This study describes the largest Brazilian cohort of MPS IIIC, documenting novel variants and regional heterogeneity. Findings highlight diagnostic delays, ancestry influences, and the urgent need for disease-modifying therapies.<\/jats:p>","DOI":"10.3390\/diseases14010005","type":"journal-article","created":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T06:25:51Z","timestamp":1766989551000},"page":"5","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0684-1818","authenticated-orcid":false,"given":"Yorran Hardman Ara\u00fajo","family":"Montenegro","sequence":"first","affiliation":[{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica e Populacional (INAGEMP), Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Fernanda Antero","family":"Alves","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Ancestralidade e Biologia Molecular (LABMOL), Universidade Estadual da Para\u00edba, Campina Grande 58429-500, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone Silva dos","family":"Santos-Lopes","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Ancestralidade e Biologia Molecular (LABMOL), Universidade Estadual da Para\u00edba, Campina Grande 58429-500, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7280-6260","authenticated-orcid":false,"given":"Carolina Fischinger Moura de","family":"Souza","sequence":"additional","affiliation":[{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Casa dos Raros, Porto Alegre 90610-261, Brazil"},{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Gen\u00e9tica e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0804-2876","authenticated-orcid":false,"given":"Fabiano de Oliveira","family":"Poswar","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Gen\u00e9tica e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carolina","family":"Brusius-Facchin","sequence":"additional","affiliation":[{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda","family":"Bender-Pasetto","sequence":"additional","affiliation":[{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristiane","family":"Michelin-Tirelli","sequence":"additional","affiliation":[{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6710-2333","authenticated-orcid":false,"given":"Fernanda Medeiros","family":"Sebasti\u00e3o","sequence":"additional","affiliation":[{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franciele Barbosa","family":"Trapp","sequence":"additional","affiliation":[{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Casa dos Raros, Porto Alegre 90610-261, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7104-0128","authenticated-orcid":false,"given":"Erlane Marques","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Hospital Infantil Albert Sabin, Fortaleza 60410-794, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula Frassinetti Vasconcelos de","family":"Medeiros","sequence":"additional","affiliation":[{"name":"Unidade Acad\u00eamica de Medicina, Hospital Universit\u00e1rio Alcides Carneiro, Universidade Federal de Campina Grande, Campina Grande 58109-900, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1754-1300","authenticated-orcid":false,"given":"Chong Ae","family":"Kim","sequence":"additional","affiliation":[{"name":"Genetics Unit, Departamento f Pediatrics, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo 05508-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia Katiane","family":"Embira\u00e7u","sequence":"additional","affiliation":[{"name":"Departamento de Medicina, Universidade Federal da Bahia, Salvador 40110-903, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6397-1301","authenticated-orcid":false,"given":"Mariluce","family":"Riegel-Giugliani","sequence":"additional","affiliation":[{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica e Populacional (INAGEMP), Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Casa dos Raros, Porto Alegre 90610-261, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1598-5861","authenticated-orcid":false,"given":"Guilherme","family":"Baldo","sequence":"additional","affiliation":[{"name":"Casa dos Raros, Porto Alegre 90610-261, Brazil"},{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Gen\u00e9tica e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil"},{"name":"C\u00e9lulas, Tecidos e Genes, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-003, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica e Populacional (INAGEMP), Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"MPS Brazil Network, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, Brazil"},{"name":"Casa dos Raros, Porto Alegre 90610-261, Brazil"},{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Gen\u00e9tica e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil"},{"name":"DASA Gen\u00f4mica, S\u00e3o Paulo 06455-010, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1002\/ajmg.a.61456","article-title":"Estimated birth prevalence of mucopolysaccharidoses in Brazil","volume":"182","author":"Federhen","year":"2020","journal-title":"Am. 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