{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T09:42:04Z","timestamp":1766050924757,"version":"build-2065373602"},"reference-count":41,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T00:00:00Z","timestamp":1757894400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["CNPq","FAPERGS"],"award-info":[{"award-number":["CNPq","FAPERGS"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundo de Amparo a Pesquisa do Estado do Rio Grande do Sul","award":["CNPq","FAPERGS"],"award-info":[{"award-number":["CNPq","FAPERGS"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: Sanfilippo Syndrome type B or Mucopolysaccharidosis type IIIB (MPS IIIB, OMIM 252920) is a lysosomal storage disease caused by deficiency of alpha-N-acetylglucosaminidase (NAGLU, E.C. 3.2.1.50) due to pathogenic variants in the NAGLU gene (17q21.2). The disease is characterized by progressive neurological manifestations, marked by cognitive decline, with relatively mild somatic involvement. We aim to present relevant information on a cluster of MPS IIIB identified in Ecuador, particularly regarding their clinical, biochemical, genetic, demographic, and ancestry characteristics. Methods: We present a characterization of a clinical, biochemical, genetic and demographic cluster of MPS IIIB patients in Ecuador, located in four main regions: Manab\u00ed, Guayas, Los R\u00edos, and Santo Domingo de los Ts\u00e1chilas. The patients included were diagnosed due to increased levels of urinary glycosaminoglycans (uGAG), plus deficient activity of NAGLU, and\/or identification of biallelic pathogenic mutations in the NAGLU gene. Patients\u2019 charts were reviewed for biochemical findings, medical history, clinical manifestations and assessments. Results: We present the results of clinical, biochemical, genetic and demographic characterization of a cluster in Ecuador with 24 patients identified with Sanfilippo syndrome type IIIB, resulting in an estimated incidence of 1.5\/100,000. The mean age at diagnosis was 8.8 years, with symptom onset at 4.5 years on average. All patients exhibited elevated levels of uGAG and undetectable NAGLU activity, and all of them presented the c.1487T&gt;C (p.Leu496Pro) variant in the NAGLU gene in homozygosis, indicating a possible founder effect, with the exception of one heterozygous one (p.Leu496Pro\/p.Arg482Gln). A positive correlation between age of diagnosis and the concentration of one isoform of heparan sulfate (HS-OS) was found (p &lt; 0.05). Clinical findings included neuropsychomotor developmental delay (75%), neurological regression (65%), hepatomegaly (55%), growth deficiency (50%), coarse facies (45%) and hernia (40%). Male patients presented earlier onset of symptoms. Maternal ancestry was successfully determined for 21 of the 24 patients. The majority were of Native American ancestry (71.4%), followed by European (19%), African (4.8%), and Asian (4.8%) lineages. Haplogroup A was the most prevalent (42.9%), followed by haplogroups D (19%), C, U, and H (each 9.5%), and R and L2 (each 4.8%). Conclusions: Ancestry can indicate a possible mechanism to explain the heterogeneous symptomatic presentation. These findings highlight the need for further research on genetic and environmental influences on disease severity in this population.<\/jats:p>","DOI":"10.3390\/diagnostics15182337","type":"journal-article","created":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T16:27:33Z","timestamp":1757953653000},"page":"2337","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8725-9211","authenticated-orcid":false,"given":"Mar\u00eda Luc\u00eda","family":"Castro Moreira","sequence":"first","affiliation":[{"name":"Faculdade de Medicina, Universidade Federal do Mato Grosso do Sul, Campo Grande 79070-900, MS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0684-1818","authenticated-orcid":false,"given":"Yorran Hardman Ara\u00fajo","family":"Montenegro","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ang\u00e9lica","family":"Salatino-Oliveira","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9ctor Quintero","family":"Montano","sequence":"additional","affiliation":[{"name":"Facultad Ciencias de la Salud, Univesidad Laica Eloy Alfaro, Manta 27W3+MP, Manab\u00ed, Ecuador"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodolfo F. Niz","family":"Bareiro","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio Maria Aparecida Pedrossia (HUMAP), Universidade Federal do Mato Grosso do Sul, Campo Grande 79070-900, MS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone Silva dos","family":"Santos-Lopes","sequence":"additional","affiliation":[{"name":"Biology Departament, Universidade Estadual da Para\u00edba, Campina Grande 58429-500, PB, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3797-6655","authenticated-orcid":false,"given":"Thiago Ramos da","family":"Silva","sequence":"additional","affiliation":[{"name":"Biology Departament, Universidade Estadual da Para\u00edba, Campina Grande 58429-500, PB, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6526-3560","authenticated-orcid":false,"given":"Lucas Kelvy Sales","family":"Azevedo","sequence":"additional","affiliation":[{"name":"Biology Departament, Universidade Estadual da Para\u00edba, Campina Grande 58429-500, PB, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karyme Beatrice Louren\u00e7o da","family":"Silva","sequence":"additional","affiliation":[{"name":"Biology Departament, Universidade Estadual da Para\u00edba, Campina Grande 58429-500, PB, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2427-5263","authenticated-orcid":false,"given":"Affonso Weslley de Almeida","family":"Moreira","sequence":"additional","affiliation":[{"name":"Biology Departament, Universidade Estadual da Para\u00edba, Campina Grande 58429-500, PB, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzany Silva","family":"Araujo","sequence":"additional","affiliation":[{"name":"Biology Departament, Universidade Estadual da Para\u00edba, Campina Grande 58429-500, PB, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9330-0154","authenticated-orcid":false,"given":"Francyne","family":"Kubaski","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, SC 29646, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franciele Barbosa","family":"Trapp","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, RS, Brazil"},{"name":"Casa dos Raros, Porto Alegre 90610-261, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carolina","family":"Brusius-Facchin","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, RS, Brazil"},{"name":"Casa dos Raros, Porto Alegre 90610-261, RS, 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":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristiane","family":"Michelin-Tirelli","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, RS, 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":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, RS, Brazil"},{"name":"Casa dos Raros, Porto Alegre 90610-261, RS, Brazil"},{"name":"Centro de Ci\u00eancias da Sa\u00fade, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-003, RS, 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":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre 90035-903, RS, Brazil"},{"name":"Casa dos Raros, Porto Alegre 90610-261, RS, Brazil"},{"name":"Centro de Ci\u00eancias da Sa\u00fade, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-003, RS, Brazil"},{"name":"DASA Gen\u00f4mica, S\u00e3o Paulo 05452-030, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Durval","family":"Palhares","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina, Universidade Federal do Mato Grosso do Sul, Campo Grande 79070-900, MS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1002\/ajmg.a.62572","article-title":"Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network","volume":"188","author":"Montenegro","year":"2022","journal-title":"Am. 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