Doo Hwan Bae1, Ji Hyun Lee2, Je Seon Song3, Han-Sung Jung4, Hyung Jun Choi3, Ji Hun Kim1. 1. a Department of Pediatric Dentistry , Yonsei University Wonju College of Medicine , Wonju-si , Korea. 2. b Department of Clinical Pharmacology and Therapeutics , College of Medicine, Kyung Hee University , Seoul , Korea. 3. c Department of Pediatric Dentistry , College of Dentistry, Yonsei University , Seoul , Korea. 4. 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.
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.
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.