Genetic and Epigenetic Aspects of Amelogenesis Imperfecta and Dentinogenesis Imperfecta

Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DGI) are hereditary dental disorders.AI is a developmental condition resulting in enamel defects of all or almost all teeth.The prevalence ranges from 1:700 to 1:14,000 for AI and from 1:6000 to 1:8000 for DGI.DGI is a collective of autosomal dominant conditions of anomalous dentine structures affecting either the primary or both the deciduous and permanent dentitions.AI is caused by disturbed developmental processes, such as mutations of the AMELX gene that encodes secretion of extracellular matrix proteins from ameloblasts during enamel formation.AI can also arise due to mutations in several other genes that encode proteins with a role in amelogenesis.DGI results from mutations in the gene encoding dentine sialophosphoprotein (DSPP), COL1A1 and COL1A2.In addition, both AI and DGI can be promoted by interference of the regulatory functions of key genes through influence by environmental factors such as trauma, chemicals or systemic diseases, and epigenetic factors such as DNA methylation.This paper aims to review the genetic and epigenetic etiological factors of AI and DGI.