| Project/Area Number |
25670880
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Orthodontics/Pediatric dentistry
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| Research Institution | Showa University |
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Principal Investigator |
MAKI Koutaro 昭和大学, 歯学部, 教授 (80219295)
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| 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)
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 永久歯先天性欠如 / エクソンシーケンス / 下顎前歯 / 永久歯先天欠如 / 永久歯 / 先天欠如 / ゲノム / Exome / 遺伝（子） |
|---|
| 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.
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