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Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 MPS IVA patients, followed at a single center, and ancestry (Y chromosome and mitochondrial markers) of a subsample of 17 patients, most with the p.Ser341Arg (c.1023C&gt;G) mutation were analyzed. Parental consanguinity was observed in 15\/20 couples; a rare homozygous\n                    <jats:italic>N<\/jats:italic>\n                    \u2010acetylgalactosamine\u20106\u2010sulfatase (GALNS) mutation was found in 7\/16 families with intra\u2010familial phenotypic heterogeneity. Paternal ancestry was 94.2% (16\/17) European, 5.8% (1\/17) African, and 0% Amerindian. The European paternal haplogroups R1a, R1b, and R* accounted for 94.2% (16\/17) of the patients. The R1b haplogroup, identified in 59% (10\/17) of the patients, is frequently found in populations from the Iberian Peninsula. European, Amerindian, and African maternal ancestry was observed in 46.9% (8\/17), 35.4% (6\/17), and 17.7% (3\/17) of the patients, respectively. Study of a cluster of MPS IVA patients from Northeastern Brazil, with high parental consanguinity and phenotypic heterogeneity showed predominantly European parental ancestry. This ancestry finding corroborates historical data on the local settlement, formed predominantly by European men.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62375","type":"journal-article","created":{"date-parts":[[2021,6,2]],"date-time":"2021-06-02T10:05:52Z","timestamp":1622628352000},"page":"2929-2940","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3093-611X","authenticated-orcid":false,"given":"Simone Silva","family":"dos Santos\u2010Lopes","sequence":"first","affiliation":[{"name":"Biology Department Biology Department, State of Paraiba University  Campina Grande Paraiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4720-3126","authenticated-orcid":false,"given":"Jessica Maria Flor\u00eancio","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Biology Department Biology Department, State of Paraiba University  Campina Grande Paraiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9904-8765","authenticated-orcid":false,"given":"Denise","family":"de Queiroga Nascimento","sequence":"additional","affiliation":[{"name":"Biology Department Biology Department, State of Paraiba University  Campina Grande Paraiba 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":"Biology Department Biology Department, State of Paraiba University  Campina Grande Paraiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3792-6168","authenticated-orcid":false,"given":"Sandra","family":"Leistner\u2010Segal","sequence":"additional","affiliation":[{"name":"National Institute of Populational Medical Genetics\u2013INAGEMP  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1103-6589","authenticated-orcid":false,"given":"Ana Carolina","family":"Brusius\u2010Facchin","sequence":"additional","affiliation":[{"name":"National Institute of Populational Medical Genetics\u2013INAGEMP  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1137-2788","authenticated-orcid":false,"given":"C\u00e1tia","family":"Eufrazino Gondim","sequence":"additional","affiliation":[{"name":"Alcides Carneiro University Hospital \u2010 HUAC, Federal University of Campina Grande  Campina Grande Paraiba 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":"National Institute of Populational Medical Genetics\u2013INAGEMP  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Department of Genetics UFRGS  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1863-9358","authenticated-orcid":false,"given":"Paula Frassinetti Vasconcelos","family":"de Medeiros","sequence":"additional","affiliation":[{"name":"Alcides Carneiro University Hospital \u2010 HUAC, Federal University of Campina Grande  Campina Grande Paraiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/303004"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2018.01.008"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.anthro.28.1.51"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/316931"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/471325"},{"key":"e_1_2_10_7_1","volume-title":"Os Oliveira Ledo e a Genealogia de Santa Rosa","author":"Almeida A. 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