Exploring the Genetic Basis of Dens Evaginatus Using Whole-Exome Sequencing
Source abstract
Abstract
Dens evaginatus (DE) is a dental abnormality characterized by tubercles on the occlusal surfaces of teeth and is associated with the risk of pulpal inflammation due to fractures. The cause of DE remains unclear, as limited data are available to determine its etiology. The aim of this study was to investigate the genetic background of DE using whole-exome sequencing (WES). Saliva samples were collected from two patients of Family A and three patients of Family B, including an incident case of DE, and analyzed using WES. Rare variants were extracted from the WES data and filtered by family to extract candidate variants. Gene variants of TLR3 and MDC1 were identified as etiologic factors for DE. The variant MDC1 (c.3908C>T) was identified to be damaging, according to the scores from Polymorphism Phenotyping v2. Our findings contribute towards an understanding of the etiology of DE, which would facilitate improved treatment to prevent the risk of DE fractures and pulpal inflammation. Understanding the mechanism of DE development may also be helpful for developing regenerative medicine and gene therapy strategies.
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Research context
OpenAlex topics: dental development and anomalies · Cancer-related molecular mechanisms research · Pediatric health and respiratory diseases
SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.
Affiliations
Department of Orthodontics, School of Dentistry, Kanagawa Dental University, 82 Inaoka-cho, Yokosuka 238-8580, Japan
Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, 13-1 Takara-machi, Kanazawa 920-8640, Japan
Department of Orthodontics, School of Dentistry, Pusan National University, 2, Busandaehak-ro 63beon-gil, Geumjeong-gu, Busan 46241, Korea
Funding
Japan Society for Promotion of Science
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