Role of Genes in Dens Invaginatus: A Whole Exome Sequencing Study

Dens invaginatus (DI) is an abnormality of tooth structure that occurs due to invagination of enamel organ into the dental papilla before calcification. Dental anomalies have a diverse etiology, with contributions from both genetic and environmental factors that impact the dental lamina. The development of dental anomalies, including DI, could be significantly influenced by genes. Although the precise cause of DI is still unknown, it is thought to be caused by disruptions during the morphogenesis of teeth. Exome sequencing is a technique for genetic testing that can be used to identify genetic mutations or variations in genes that are important in specific diseases or conditions. The present study is the first of its kind to employ the method of whole exome sequencing (WES) to determine the genetic background of DI.

Blood samples were collected from both the mother and child who had DI and analyzed using WES.

A gene variant of KMT2D was identified as common in both mother and child, which could be a causative factor for DI. The variant KMT2D (c.15907C>T) was identified according to the analytic results obtained.

Our research advances knowledge towards the etiology of DI and to avoid the risk factors linked to it. Developing solutions for gene therapy and regenerative medicine may also benefit from an understanding of the process behind DI development.

Grace M, Aarthi J, Elangovan A, et al. Role of Genes in Dens Invaginatus: A Whole Exome Sequencing Study. Int J Clin Pediatr Dent 2025;18(10):1255-1259.