{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:44:01Z","timestamp":1762004641807},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,11,8]],"date-time":"2014-11-08T00:00:00Z","timestamp":1415404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,10]]},"abstract":"Gaucher's disease (GD<\/jats:styled-content>) is caused by a \u03b2\u2010glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in the reticuloendothelial system. The prevalence of GD<\/jats:styled-content> in Tabuleiro do Norte (TN<\/jats:styled-content>) (1:4000) is the highest in Brazil. The purpose of this study was to present evidence of consanguinity and founder effect for the G377S<\/jats:styled-content> mutation (c.1246G<\/jats:styled-content>>A) among GD<\/jats:styled-content> patients in TN<\/jats:styled-content> based on enzyme, molecular and genealogical studies. Between March 2009 and December 2010, 131 subjects at risk for GD<\/jats:styled-content> (GC<\/jats:styled-content> in dried blood \u22642.19\u2009nmol\/h\/ml) and 5 confirmed GD<\/jats:styled-content> patients from the same community were submitted for molecular analysis to characterize the genetic profile of the population. Based on the enzymatic and molecular analysis, the subjects were classified into three categories: affected (n<\/jats:italic>\u2009=\u20095), carrier (n<\/jats:italic>\u2009=\u200920) and non\u2010carrier (n<\/jats:italic>\u2009=\u2009111). All carriers were (G377S<\/jats:styled-content>\/wt). Affected subjects were homozygous (G377S<\/jats:styled-content>\/G377S<\/jats:styled-content>). The identification of a single mutation in carriers and homozygotes from different generations, the history of the community and the genealogy study suggest that the high prevalence of GD<\/jats:styled-content> in this population may be due to a combination of consanguinity and founder effect for the G377S<\/jats:styled-content> mutation.<\/jats:p>","DOI":"10.1111\/cge.12515","type":"journal-article","created":{"date-parts":[[2014,10,7]],"date-time":"2014-10-07T07:41:23Z","timestamp":1412667683000},"page":"391-395","source":"Crossref","is-referenced-by-count":11,"title":["Consanguinity and founder effect for Gaucher disease mutation G377S<\/scp> in a population from Tabuleiro do Norte, Northeastern Brazil"],"prefix":"10.1111","volume":"88","author":[{"given":"R.G.","family":"Chaves","sequence":"first","affiliation":[{"name":"UFRN Postgraduate Program Natal Brazil"},{"name":"Municipal Department of Health Tabuleiro do Norte Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. da Veiga","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology USP Institute of Biosciences S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.T.","family":"de Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology USP Institute of Biosciences S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Rozenberg","sequence":"additional","affiliation":[{"name":"Department of Genetics and Evolutionary Biology USP Institute of Biosciences S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.D.F.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"UECE Cear\u00e1 State University Fortaleza Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.C.","family":"Coelho","sequence":"additional","affiliation":[{"name":"UFRGS\/ICBS Department of Biochemistry Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Michelin\u2010Tirelli","sequence":"additional","affiliation":[{"name":"UFRGS\/HCPA Medical Genetics Service Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. de Freitas","family":"Chaves","sequence":"additional","affiliation":[{"name":"Unichristus School of Medicine Fortaleza Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"G.B.","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"UFRN\/CCS Department of Clinical and Toxicological Analysis Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,8]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"3635","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Beutler E","year":"2001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-17"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20676"},{"issue":"3","key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1182\/blood.V76.3.646.646","article-title":"Misuse of marrow examination in the diagnosis of Gaucher disease","volume":"76","author":"Beutler E","year":"1990","journal-title":"Blood"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.158.16.1754"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00798-7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2006.03.029"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.050"},{"key":"e_1_2_6_10_1","unstructured":"International Collaborative Gaucher Group Gaucher Registry 2014"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_19"},{"key":"e_1_2_6_12_1","unstructured":"VieiraVMG(2000). 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