Clinical Genetic Basis of Tooth Agenesis

Abstract: Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of the condition. Gene anomalies or mutations in MSX1, PAX9, AXIN2 and EDA genes, appear to be most critical during the development of tooth, leading to various forms of tooth agenesis and systemic features. The aim of this paper is to review the genetic basis of hypodontia and identify the genes that have been definitively implicated in the agenesis of human dentition.