The genetics of human tooth agenesis: New discoveries for understanding dental anomalies

The important role of genetics has been increasingly recognized in recent y ears with respect to the understanding of dental anomalies, such as tooth a genesis, The lack of any real insight into the cause of this condition has led us to use a human molecular genetics approach to identify the genes per turbing normal dental development. We are reporting a strategy that can be applied to investigate the underlying cause of human tooth agenesis, Starti ng with a single large family presenting a clearly recognizable and well-de fined form of tooth agenesis, we have identified a defective gene that affe cts the formation of second premolars and third molars, With the use of " t he family study" method, evidence is produced showing that other genetic de fects also contribute to the wide range of phenotypic variability of tooth agenesis. Identification of genetic mutations in families with tooth agenes is or other dental anomalies will enable preclinical diagnosis and permit i mproved orthodontic treatment.