Exome sequencing identifies mutations as a cause of selective tooth agenesis

2014 Fiscal Year Final Research Report

• Project/Area Number: 25670880
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Orthodontics/Pediatric dentistry
• Research Institution: Showa University
• Principal Investigator: MAKI Koutaro 昭和大学, 歯学部, 教授 (80219295)
• Co-Investigator(Kenkyū-buntansha): YAMAGUCHI Tetsutaro 昭和大学, 歯学部, 准教授 (40384193) ; SUGIURA Mami 昭和大学, 歯学部, 助教 (10611741) ; ATARASHI Makiko 昭和大学, 歯学部, 助教 (20585806) ; TSUTSUI Sawako 昭和大学, 歯学部, 助教 (80644913)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 永久歯先天性欠如 / エクソンシーケンス / 下顎前歯

Outline of Final Research Achievements

Tooth agenesis is one of the most common human developmental anomalies. Molecular analyses have previously successfully elucidated the genetic background of severe forms of selective tooth agenesis. Here, we report on the genomic analysis of the selective agenesis of one or two mandibular incisors using exome sequencing. Patients with nonsyndromic mandibular incisor(s) agenesis were found to harbor mutations in cadherin-related 23 (CDH23) after excluding genetic mutations previously associated with the nonsyndromic agenesis of multiple teeth, including those in MSX1, PAX9, AXIN2, EDA, EDAR, EDARADD, and WNT10A. Mutations in CDH23 are known to cause both Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss (DFNB12). The present data indicate that dominant CDH23 mutations cause a nonsyndromic phenotype affecting tooth development.

Free Research Field

歯科矯正学