Abstract
We experienced a case of amelogenesis imperfecta with deciduous dentition and provided not only clinical examination and treatment but also a laboratory test for identification of the mode of inheritance using DNA examination of human amelogenin gene (AMGX) for the patient. The findings were as follows:
1. A 3-year-old Japanese male was evaluated with a chief complaint of severe sensitivity causing by enamel defects. Based on clinical examination, we found that the patient had defective enamel on all of the primary teeth present. The patient had severe loss of enamel particularly on the primary molar teeth that had little enamel exposing dentin. The enamel had been chipped away at the incisal edge and labial surface on the anterior teeth. The enamel was found to be relatively soft by probing and appeared to have normal thickness and weak radiodensity. As the past medical history was unremarkable for any systemic, metabolic, or endocrine condition, a diagnosis of amelogenesis imperfecta was established.
2. Full coverage with stainless steel crowns was provided for the primary first and second molar on both of maxilla and mandible, which had severe sensitivity due to loss of protective enamel. This treatment removed the severe sensitivity. Successively, composite resin was used to cover the exposed dentin on the anterior teeth. The patient was provided with three-month recall schedule for preventive treatment.
3. The family history of this disorder was unclear for diagnosing the mode of inheritance of this disease. To obtain the mode of inheritance, the structure of the AMGX gene was analyzed using the molecular biological technique. Consequently, no differences were obtained in the sequence of the seven exons of AMGX between the affected patient and individuals with normal teeth. This finding suggested that the patient did not have any mutation in the seven exons of AMGX, so that the autosomal inheritance pattern was expected, excluding X-linked inheritance.
