Bae Doo Hwan, Lee Ji Hyun, Song Je Seon, Jung Han-Sung, Choi Hyung Jun, Kim Ji Hun
a Department of Pediatric Dentistry , Yonsei University Wonju College of Medicine , Wonju-si , Korea.
b Department of Clinical Pharmacology and Therapeutics , College of Medicine, Kyung Hee University , Seoul , Korea.
Acta Odontol Scand. 2017 Jul;75(5):350-354. doi: 10.1080/00016357.2017.1312515. Epub 2017 Apr 10.
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.
We recruited a Korean family with supernumerary premolars and performed mutational analyses to identify the underlying molecular genetic aetiology.
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.
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.
额外牙是指患者牙齿数量异常增多的一种情况，可与非综合征型或综合征型表型相关。血小板衍生生长因子受体（PDGFRs）是细胞表面酪氨酸激酶受体，参与牙齿发育的多个方面。本研究的目的是通过对一个连续两代出现额外前磨牙的家族进行基因分析，确定家族性额外牙的致病基因以及牙齿数量异常的分子发病机制。
我们招募了一个有额外前磨牙的韩裔家族，并进行突变分析以确定潜在的分子遗传学病因。
靶向外显子组测序在血小板衍生生长因子受体B（PDGFRB）基因中鉴定出一个错义突变（c.C2053T，p.R685C）。桑格测序证实患者家族中的三名受累个体为该突变的杂合子。
这是关于一个携带可能导致额外前磨牙的PDGFRB突变的韩裔家族的首次报告。我们的结果证明了下一代测序在快速确定牙齿数量异常的遗传病因方面的作用。
