title: Genetic analysis of non-syndromic familial multiple supernumerary premolars.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: a Department of Pediatric Dentistry , Yonsei University Wonju College of Medicine , Wonju-si , Korea.
authors.forename: Doo Hwan
authors.initials: DH
authors.lastname: Bae
authors.affiliation: b Department of Clinical Pharmacology and Therapeutics , College of Medicine, Kyung Hee University , Seoul , Korea.
authors.forename: Ji Hyun
authors.initials: JH
authors.lastname: Lee
authors.affiliation: c Department of Pediatric Dentistry , College of Dentistry, Yonsei University , Seoul , Korea.
authors.forename: Je Seon
authors.initials: JS
authors.lastname: Song
authors.affiliation: d Division in Anatomy and Developmental Biology, Department of Oral Biology , Oral Science Research Center, BK21 PLUS Project, Yonsei University College of Dentistry , Seoul , Korea.
authors.forename: Han-Sung
authors.initials: HS
authors.lastname: Jung
authors.affiliation: c Department of Pediatric Dentistry , College of Dentistry, Yonsei University , Seoul , Korea.
authors.forename: Hyung Jun
authors.initials: HJ
authors.lastname: Choi
authors.affiliation: a Department of Pediatric Dentistry , Yonsei University Wonju College of Medicine , Wonju-si , Korea.
authors.forename: Ji Hun
authors.initials: JH
authors.lastname: Kim
mesh_terms: D001641:Bicuspid / Q000473:pathology*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009805:Odontogenesis; D010641:Phenotype; D017354:Point Mutation; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D056910:Republic of Korea; D014096:Tooth, Supernumerary / Q000473:pathology*
chemical_list: C000605860:PDGFRB protein, human; D020797:Receptor, Platelet-Derived Growth Factor beta
keywords: Non-syndromic supernumerary tooth; PDGFRB; familial occurrence; next generation sequencing; targeted sequencing