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Genetic analysis of non-syndromic familial multiple supernumerary premolars

Authors
 Doo Hwan Bae  ;  Ji Hyun Lee  ;  Je Seon Song  ;  Han-Sung Jung  ;  Hyung Jun Choi  ;  Ji Hun Kim 
Citation
 ACTA ODONTOLOGICA SCANDINAVICA, Vol.75(5) : 350-354, 2017 
Journal Title
 ACTA ODONTOLOGICA SCANDINAVICA 
ISSN
 0001-6357 
Issue Date
2017
MeSH
Bicuspid/pathology* ; DNA Mutational Analysis ; Family Health ; Female ; Humans ; Male ; Odontogenesis ; Phenotype ; Point Mutation ; Receptor, Platelet-Derived Growth Factor beta/genetics* ; Republic of Korea ; Tooth, Supernumerary/pathology*
Keywords
Non-syndromic supernumerary tooth ; PDGFRB ; familial occurrence ; next generation sequencing ; targeted sequencing
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.
Full Text
http://www.tandfonline.com/doi/full/10.1080/00016357.2017.1312515
DOI
10.1080/00016357.2017.1312515
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
Yonsei Authors
Song, Je Seon(송제선) ORCID logo https://orcid.org/0000-0001-8620-5629
Jung, Han Sung(정한성) ORCID logo https://orcid.org/0000-0003-2795-531X
Choi, Hyung Jun(최형준) ORCID logo https://orcid.org/0000-0002-3315-6912
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154430
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