Amelogenesis imperfecta (AI) is a rare disorder characterised by abnormal development of the enamel. In patients with AI, normal thickness of the enamel is affected, resulting in discoloured, pitted or grooved teeth that are brittle. Patients suffering from AI are also prone to early tooth loss and/or diseases affecting the periodontal tissues.
AI is classified into four types based on the nature of the enamel defect and its appearance on X-ray images. The four major types are: hypoplastic (Type I), hypomaturation (Type II), hypocalcified (Type III), and hypomaturation/hypocalcified/taurodontism (Type IV). These main four types are further classified into 18 subtypes based on their inheritance pattern. Amelogenesis imperfecta type IA (AI1A) follows autosomal dominant pattern of inheritance and is associated with heterozygous mutation in the LAMB3 gene.