Genetic Anomalies and Tooth Agenesis: Review Article

Abstract

Tooth agenesis is one of the most prevalent craniofacial congenital anomalies found in some people. Some genes, such as homeobox gene (MSX1), paired domain transcription factor (PAX9), axis inhibition protein 2 (AXIN2), and Ectodysplasin-A (EDA) are involved in tooth development and encodes the transcription factor, which plays an important role during tooth development. 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. Reported studies show that haploinsufficiency for MSX1 and PAX9 genes are associated with a severe form of tooth agenesis. Mutations in several other genes have also been identified in rare forms of tooth agenesis. The present paper aims to review the scientific literature related to genetic influence of familial and non-syndromic forms of tooth disorder at the molecular level.