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Genetic analysis of non-syndromic familial multiple supernumerary premolars

DC FieldValueLanguage
dc.contributor.author송제선-
dc.contributor.author정한성-
dc.contributor.author최형준-
dc.date.accessioned2017-11-02T08:24:20Z-
dc.date.available2017-11-02T08:24:20Z-
dc.date.issued2017-
dc.identifier.issn0001-6357-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/154430-
dc.description.abstractOBJECTIVE: Supernumerary teeth, a term describing a condition where patients have an abnormally large number of teeth, can be associated with non-syndromic or syndromic phenotypes. PDGFRs are cell surface tyrosine kinase receptors, and are involved in several aspects of tooth development. The purpose of this study was to identify causative genes of familial supernumerary teeth and the molecular pathogenesis of tooth number abnormalities through genetic analysis of a family that showed supernumerary premolars in two successive generations. MATERIAL AND METHODS: We recruited a Korean family with supernumerary premolars and performed mutational analyses to identify the underlying molecular genetic aetiology. RESULTS: Targeted exome sequencing identified a missense mutation in PDGFRB (c.C2053T, p.R685C). Sanger sequencing confirmed that three affected individuals in the patient's family were heterozygous for the mutation. CONCLUSIONS: This is the first report of a Korean family that carries a PDGFRB mutation potentially responsible for supernumerary premolars. Our results demonstrate the power of next-generation sequencing in rapidly determining the genetic aetiology of numerical tooth abnormalities.-
dc.description.statementOfResponsibilityrestriction-
dc.publisherTaylor & Francis-
dc.relation.isPartOfACTA ODONTOLOGICA SCANDINAVICA-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHBicuspid/pathology*-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHFamily Health-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHOdontogenesis-
dc.subject.MESHPhenotype-
dc.subject.MESHPoint Mutation-
dc.subject.MESHReceptor, Platelet-Derived Growth Factor beta/genetics*-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHTooth, Supernumerary/pathology*-
dc.titleGenetic analysis of non-syndromic familial multiple supernumerary premolars-
dc.typeArticle-
dc.publisher.locationEngland-
dc.contributor.collegeCollege of Dentistry-
dc.contributor.departmentDept. of Pediatric Dentistry-
dc.contributor.googleauthorDoo Hwan Bae-
dc.contributor.googleauthorJi Hyun Lee-
dc.contributor.googleauthorJe Seon Song-
dc.contributor.googleauthorHan-Sung Jung-
dc.contributor.googleauthorHyung Jun Choi-
dc.contributor.googleauthorJi Hun Kim-
dc.identifier.doi10.1080/00016357.2017.1312515-
dc.contributor.localIdA03758-
dc.contributor.localIdA04216-
dc.contributor.localIdA02058-
dc.relation.journalcodeJ00023-
dc.identifier.eissn1502-3850-
dc.identifier.pmid28393601-
dc.identifier.urlhttp://www.tandfonline.com/doi/full/10.1080/00016357.2017.1312515-
dc.subject.keywordNon-syndromic supernumerary tooth-
dc.subject.keywordPDGFRB-
dc.subject.keywordfamilial occurrence-
dc.subject.keywordnext generation sequencing-
dc.subject.keywordtargeted sequencing-
dc.contributor.alternativeNameSong, Je Seon-
dc.contributor.alternativeNameJung, Han Sung-
dc.contributor.alternativeNameChoi, Hyung Jun-
dc.contributor.affiliatedAuthorJung, Han Sung-
dc.contributor.affiliatedAuthorChoi, Hyung Jun-
dc.contributor.affiliatedAuthorSong, Je Seon-
dc.citation.titleActa Odontologica Scandinavica-
dc.citation.volume75-
dc.citation.number5-
dc.citation.startPage350-
dc.citation.endPage354-
dc.identifier.bibliographicCitationACTA ODONTOLOGICA SCANDINAVICA, Vol.75(5) : 350-354, 2017-
dc.date.modified2017-11-01-
Appears in Collections:
2. College of Dentistry (치과대학) > Dept. of Pediatric Dentistry (소아치과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers

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