Genetic alterations: Heritable dentin defects

Abstract

Dentin defects that accompany rare genetic diseases (diseases that by definition affect less than 1/2,000 individuals) can be described phenotypically by various types of anomalies that not only impair the formation and structure of the dentin and per se the color of the teeth but also cause anomalies of the crown, root, and/or pulp space shape and aberrant dentin formation such as pulpolithes or intrapulpal calcifications. They may also induce or be associated with subsequent enamel, dentin/enamel junction, or cementum/periodontium anomalies as dentinogenesis proceeds and occurs in coordination and interaction with amelogenesis and periodontium formation through epithelio-mesenchymal interactions. In this chapter, we will describe the genetic alterations of genes encoding proteins involved in dentin and bone formation reflecting the similarities between the two tissue development and homeostasis and subsequent clinical phenotypes. Animal models presenting with dentinal defects will also be mentioned.