Genetic analysis of non-syndromic familial multiple supernumerary premolars

Doo Hwan Bae, Ji Hyun Lee, JeSeon Song, Hansung Jung, Hyung Jun Choi, Ji Hun Kim

Research output: Contribution to journalArticle

1 Citation (Scopus)

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. 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.

Original languageEnglish
Pages (from-to)350-354
Number of pages5
JournalActa Odontologica Scandinavica
Volume75
Issue number5
DOIs
Publication statusPublished - 2017 Jul 4

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Bicuspid
Tooth Abnormalities
Supernumerary Tooth
Platelet-Derived Growth Factor beta Receptor
Tooth
Exome
Mutation
Receptor Protein-Tyrosine Kinases
Missense Mutation
Molecular Biology
Phenotype
Genes

All Science Journal Classification (ASJC) codes

  • Dentistry(all)

Cite this

Bae, Doo Hwan ; Lee, Ji Hyun ; Song, JeSeon ; Jung, Hansung ; Choi, Hyung Jun ; Kim, Ji Hun. / Genetic analysis of non-syndromic familial multiple supernumerary premolars. In: Acta Odontologica Scandinavica. 2017 ; Vol. 75, No. 5. pp. 350-354.
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Genetic analysis of non-syndromic familial multiple supernumerary premolars. / Bae, Doo Hwan; Lee, Ji Hyun; Song, JeSeon; Jung, Hansung; Choi, Hyung Jun; Kim, Ji Hun.

In: Acta Odontologica Scandinavica, Vol. 75, No. 5, 04.07.2017, p. 350-354.

Research output: Contribution to journalArticle

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