Beyond Amelogenesis Imperfecta Mutations: Hypomorphic Forms.

Mutations in several genes can lead to amelogenesis imperfecta. These same genes and other members of their pathways quite possibly may also contribute to individual susceptibility to dental caries and/or erosive tooth wear. This chapter provides an analysis of the function of the genes which, when mutated, cause amelogenesis imperfecta and discusses how mechanisms involving hypomorphic alleles in one or more genes, methylation changes, and imprinting disorders could be underlying individual susceptibility to dental caries and/or erosive tooth wear.