Genetic analysis of non-syndromic familial multiple supernumerary premolars.
Acta Odontol Scand
; 75(5): 350-354, 2017 Jul.
Article
em En
| MEDLINE
| ID: mdl-28393601
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 ANDMETHODS:
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Dente Supranumerário
/
Dente Pré-Molar
/
Receptor beta de Fator de Crescimento Derivado de Plaquetas
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article