{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T07:33:07Z","timestamp":1750836787237},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado do Rio de Janeiro (FAPERJ)","award":["E-26\/102.797\/2012","E-26\/110.140\/2013"],"award-info":[{"award-number":["E-26\/102.797\/2012","E-26\/110.140\/2013"]}]},{"name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico (CNPq)","award":["573993\/2008-4","481069\/2012-7","402149\/2012-2","306396\/2013-0","400427\/2013-3"],"award-info":[{"award-number":["573993\/2008-4","481069\/2012-7","402149\/2012-2","306396\/2013-0","400427\/2013-3"]}]},{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior (CAPES)","award":["1957\/2009","2799\/2010"],"award-info":[{"award-number":["1957\/2009","2799\/2010"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:p>The etiology of cleft lip with or without cleft palate (CL\u00b1P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X\u2010linked syndromes [midline 1 (<jats:italic>MID1<\/jats:italic>), oral\u2010facial\u2010digital syndrome 1 (<jats:italic>OFD1<\/jats:italic>), and dystrophin (<jats:italic>DMD<\/jats:italic>)] were previously found to be associated with isolated CL\u00b1P. We attempted to confirm the role of X\u2010linked genes in the etiology of isolated CL\u00b1P in a South American population through a family\u2010based genome\u2010wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL\u00b1P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL\u00b1P. Four genomic segments were identified, two of which showed a statistically significant association with CL\u00b1P. One is an 11\u2010kb region of Xp21.1 containing the <jats:italic>DMD<\/jats:italic> gene, and the other is an intergenic region (8.7\u00a0kb; Xp11.4). Our results are consistent with recent data on the involvement of the <jats:italic>DMD<\/jats:italic> gene in the etiology of CL\u00b1P. The <jats:italic>MID1<\/jats:italic> and <jats:italic>OFD1<\/jats:italic> genes were not included in the four potential CL\u00b1P\u2010associated X\u2010chromosome genomic segments.<\/jats:p>","DOI":"10.1111\/eos.12212","type":"journal-article","created":{"date-parts":[[2015,9,2]],"date-time":"2015-09-02T18:15:48Z","timestamp":1441217748000},"page":"381-384","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Family\u2010based genome\u2010wide association study in Patagonia confirms the association of the <i>DMD<\/i> locus and cleft lip and palate"],"prefix":"10.1111","volume":"123","author":[{"given":"Renata F.","family":"Fonseca","sequence":"first","affiliation":[{"name":"Department of Genetics Institute of Biology, Federal University of Rio de Janeiro Rio de Janeiro Brazil"},{"name":"ECLAMC (Latin\u2010American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics) Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fl\u00e1via M.","family":"de Carvalho","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Biology, Federal University of Rio de Janeiro Rio de Janeiro Brazil"},{"name":"ECLAMC (Latin\u2010American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics) Rio de Janeiro Brazil"},{"name":"ECLAMC at LEMC (Laboratory of Congenital Malformation Epidemiology) Oswaldo Cruz Institute FIOCRUZ Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando A.","family":"Poletta","sequence":"additional","affiliation":[{"name":"ECLAMC (Latin\u2010American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics) Rio de Janeiro Brazil"},{"name":"ECLAMC at LEMC (Laboratory of Congenital Malformation Epidemiology) Oswaldo Cruz Institute FIOCRUZ Rio de Janeiro Brazil"},{"name":"ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation) Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Montaner","sequence":"additional","affiliation":[{"name":"CIPF (Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe); and CIBERER (Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras) Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaquin","family":"Dopazo","sequence":"additional","affiliation":[{"name":"CIPF (Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe); and CIBERER (Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras) Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan C.","family":"Mereb","sequence":"additional","affiliation":[{"name":"(In memoriam) ECLAMC at Hospital Zonal El Bols\u00f3n El Bols\u00f3n Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel A. M.","family":"Moreira","sequence":"additional","affiliation":[{"name":"Genetics Division National Cancer Institute Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hector N.","family":"Seuanez","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Biology, Federal University of Rio de Janeiro Rio de Janeiro Brazil"},{"name":"Genetics Division National Cancer Institute Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre R.","family":"Vieira","sequence":"additional","affiliation":[{"name":"Departments of Oral Biology and Pediatric Dentistry and Center for Craniofacial and Dental Genetics School of Dental Medicine University of Pittsburgh Pittsburgh PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo E.","family":"Castilla","sequence":"additional","affiliation":[{"name":"ECLAMC (Latin\u2010American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics) Rio de Janeiro Brazil"},{"name":"ECLAMC at LEMC (Laboratory of Congenital Malformation Epidemiology) Oswaldo Cruz Institute FIOCRUZ Rio de Janeiro Brazil"},{"name":"ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation) Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I\u00eada M.","family":"Orioli","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Biology, Federal University of Rio de Janeiro Rio de Janeiro Brazil"},{"name":"ECLAMC (Latin\u2010American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics) Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1999)036<0189:TOADOC>2.3.CO;2"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1996)033<0406:GONOCR>2.3.CO;2"},{"key":"e_1_2_6_4_1","first-page":"16","article-title":"Etiology of facial clefts: prospective evaluation of 428 patients","volume":"25","author":"Jones MC","year":"1988","journal-title":"Cleft Palate J"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051048"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12025"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000080776"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32076"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.237"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2010.116"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302822"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/518670"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/301904"},{"key":"e_1_2_6_15_1","volume-title":"R project for statistical computing"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2008.00574.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0039240"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90383-2"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(03)00585-4"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.019"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270306"},{"key":"e_1_2_6_22_1","first-page":"e66","article-title":"The Walker\u2010Warburg syndrome with cleft lip and palate","volume":"48","author":"Pratap A","year":"2007","journal-title":"Singapore Med J"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.014"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-6-18"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000294"}],"container-title":["European Journal of Oral Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Feos.12212","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/eos.12212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T12:57:27Z","timestamp":1696337847000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/eos.12212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1111\/eos.12212"],"URL":"https:\/\/doi.org\/10.1111\/eos.12212","archive":["Portico"],"relation":{},"ISSN":["0909-8836","1600-0722"],"issn-type":[{"value":"0909-8836","type":"print"},{"value":"1600-0722","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"2015-08-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-09-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}