{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T01:36:31Z","timestamp":1776648991061,"version":"3.51.2"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T00:00:00Z","timestamp":1754352000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T00:00:00Z","timestamp":1754352000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004612","name":"Funda\u00e7\u00e3o Arauc\u00e1ria","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004612","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The Mennonite population has a unique history of 500\u2009years of genetic isolation shaped by at least three demographic bottlenecks, founder effects, inbreeding, epidemics, and migrations. To evaluate their susceptibility for monogenic diseases (MD), we performed whole\u2010exome sequencing on 325 volunteers from two South Brazilian Mennonite settlements (one urban and another rural). We identified 23 pathogenic variants (P) and 27 likely P, with 22.8% accounting for endocrine, nutritional, and metabolic MDs, 17.5% for developmental anomalies, and 10.5% for nervous system MDs.\n                    <jats:italic>HFE<\/jats:italic>\n                    rs1800562 causing hereditary hemochromatosis presented the highest frequency (7.54%), followed by\n                    <jats:italic>BTD<\/jats:italic>\n                    rs13078881 for biotinidase deficiency (7.08%),\n                    <jats:italic>FLG<\/jats:italic>\n                    rs61816761 for ichthyosis vulgaris and atopic dermatitis (3.38%), and\n                    <jats:italic>FANCM<\/jats:italic>\n                    rs147021911 for Fanconi anemia (3.08%). Genomic and genealogical analysis confirmed their European origin, with very low consanguinity and high heterozygosity coefficients, confirming a random selection of refugees that emigrated from widespread settlements in Russia to Brazil in 1930. There was also a slight deviation to Native Americans for self\u2010reported admixed Mennonites. Even so, founder effects occurred for 96% of P, whose frequencies differed from non\u2010Finnish Europeans, Amish, and Brazilian populations. These findings highlight the genetic risks in this population, reinforcing the importance of genetic counseling, screening programs, and Personalized and Preventive Medicine strategies to mitigate health risks associated with inherited conditions.\n                  <\/jats:p>","DOI":"10.1111\/cge.70035","type":"journal-article","created":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T00:13:56Z","timestamp":1754439236000},"page":"266-276","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health"],"prefix":"10.1111","volume":"109","author":[{"given":"Luiza Beatriz","family":"Mayer de Lima","sequence":"first","affiliation":[{"name":"Postgraduate Program in Internal Medicine Federal University of Paran\u00e1 (UFPR)  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo Delabio","family":"Auer","sequence":"additional","affiliation":[{"name":"Laboratory of Human Molecular Genetics, Department of Genetics Federal University of Paran\u00e1 (UFPR)  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4565-4836","authenticated-orcid":false,"given":"Isabela","family":"Dall\u2019Oglio Bucco","sequence":"additional","affiliation":[{"name":"Laboratory of Human Molecular Genetics, Department of Genetics Federal University of Paran\u00e1 (UFPR)  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4000-2417","authenticated-orcid":false,"given":"Val\u00e9ria Bumiller\u2010Bini","family":"Hoch","sequence":"additional","affiliation":[{"name":"Laboratory of Human Molecular Genetics, Department of Genetics Federal University of Paran\u00e1 (UFPR)  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priscila Ianzen","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Laboratory of Human Molecular Genetics, Department of Genetics Federal University of Paran\u00e1 (UFPR)  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiana L.","family":"Lopes","sequence":"additional","affiliation":[{"name":"Human Genetics Branch National Institute of Mental Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Shuldiner","sequence":"additional","affiliation":[{"name":"Regeneron Genetics Center  Tarrytown New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilton Lima","family":"J\u00fanior","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Internal Medicine Federal University of Paran\u00e1 (UFPR)  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0902-9622","authenticated-orcid":false,"given":"Angelica Beate Winter","family":"Boldt","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Internal Medicine Federal University of Paran\u00e1 (UFPR)  Curitiba Brazil"},{"name":"Laboratory of Human Molecular Genetics, Department of Genetics Federal University of Paran\u00e1 (UFPR)  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,5]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"Weltweite Bruderschaft. 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