{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:22:23Z","timestamp":1789172543304,"version":"build-2803163510"},"reference-count":36,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,7,10]],"date-time":"2018-07-10T00:00:00Z","timestamp":1531180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"KAKENHI","award":["16K20654"],"award-info":[{"award-number":["16K20654"]}]},{"name":"KAKENHI","award":["17K11947"],"award-info":[{"award-number":["17K11947"]}]},{"name":"KAKENHI","award":["17H07109"],"award-info":[{"award-number":["17H07109"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Orofacial clefts (<jats:styled-content style=\"fixed-case\">OFC<\/jats:styled-content>s) are common and etiologically complex birth defects. This study explored potential genetic differences in a pair of Japanese monozygotic (<jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content>) twins with different forms of <jats:styled-content style=\"fixed-case\">OFC<\/jats:styled-content> using whole\u2010genome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p>One co\u2010twin (<jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content>\u20101) presented with nonsyndromic bilateral cleft lip and palate; the other co\u2010twin (<jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content>\u20102) had nonsyndromic bilateral cleft lip and unilateral left\u2010sided cleft alveolus. Neither parent had an <jats:styled-content style=\"fixed-case\">OFC<\/jats:styled-content>. Craniofacial morphologic features and potential genetic differences were compared using standard cephalometry and whole\u2010genome sequencing, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Morphologically, <jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content>\u20101 had a smaller vertical mandibular height, compared to <jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content>\u20102. However, no discordant genetic differences were detected. Moreover, both twins and their parents harbored rare candidate gene variants (<jats:italic><jats:styled-content style=\"fixed-case\">GRHL<\/jats:styled-content>3<\/jats:italic>;<jats:italic> <jats:styled-content style=\"fixed-case\">TPM<\/jats:styled-content>1<\/jats:italic>) considered to be associated with <jats:styled-content style=\"fixed-case\">OFC<\/jats:styled-content>s.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The observed differences between <jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content>\u20101 and <jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content>\u20102 in craniofacial morphology assessed by cephalograms might be directly attributable to the effects of the <jats:styled-content style=\"fixed-case\">OFC<\/jats:styled-content> on growth and\/or differences in surgical history, given the lack of any differences in genetic background. However, comparisons of discordant <jats:styled-content style=\"fixed-case\">MZ<\/jats:styled-content> twins should continue to identify novel candidates that might control <jats:styled-content style=\"fixed-case\">OFC<\/jats:styled-content> or that might partly explain the missing heritability for this common birth defect, in addition to understanding craniofacial growth and development.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12910","type":"journal-article","created":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T15:33:35Z","timestamp":1528299215000},"page":"1303-1309","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Whole\u2010genome sequencing in a pair of monozygotic twins with discordant cleft lip and palate subtypes"],"prefix":"10.1111","volume":"24","author":[{"given":"Masahiro","family":"Takahashi","sequence":"first","affiliation":[{"name":"Department of Orthodontics School of Dentistry Showa University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuyoshi","family":"Hosomichi","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences Kanazawa University  Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9806-7163","authenticated-orcid":false,"given":"Tetsutaro","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Orthodontics School of Dentistry Showa University  Tokyo Japan"},{"name":"Center for Craniofacial and Dental Genetics, Department of Oral Biology University of Pittsburgh  Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Nagahama","sequence":"additional","affiliation":[{"name":"Department of Orthodontics School of Dentistry Showa University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Orthodontics School of Dentistry Showa University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koutaro","family":"Maki","sequence":"additional","affiliation":[{"name":"Department of Orthodontics School of Dentistry Showa University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral Biology University of Pittsburgh  Pittsburgh Pennsylvania"},{"name":"Department of Human Genetics, Graduate School of Public Health University of Pittsburgh  Pittsburgh Pennsylvania"},{"name":"Clinical and Translational Science Institute, School of Medicine University of Pittsburgh  Pittsburgh Pennsylvania"},{"name":"Department of Psychiatry, School of Medicine University of Pittsburgh  Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9467-4556","authenticated-orcid":false,"given":"Seth M.","family":"Weinberg","sequence":"additional","affiliation":[{"name":"Center for Craniofacial and Dental Genetics, Department of Oral Biology University of Pittsburgh  Pittsburgh Pennsylvania"},{"name":"Department of Anthropology University of Pittsburgh  Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6808-5491","authenticated-orcid":false,"given":"Atsushi","family":"Tajima","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences Kanazawa University  Ishikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520215"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-02721-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.9503.1"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22827"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.23605"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1597\/03-090.1"},{"issue":"2","key":"e_1_2_8_8_1","first-page":"116","article-title":"Craniofacial morphology in twins discordant for cleft lip and\/or palate","volume":"17","author":"Cronin D. 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