Novel Mutations Associated with Amelogenesis Imperfecta- A Review

Abstract

Amelogenesis imperfecta [AI] is a congenital disorder that presents with a rare abnormal formation of
the enamel, external layer of the crown of teeth, unrelated to any systemic or generalized Conditions. AI
causes teeth to be usually small, discolored, pitted or grooved and prone to rapid wear and breakage. These
defects which vary among affected individuals can affect both primary teeth and secondary teeth. About 14
forms of amelogenesis imperfecta have been described so far. They are distinguished by their specific dental
abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone
without any other signs and symptoms or as a part of a syndrome that affects multiple parts of the body.