title: A case of amelogenesis imperfecta of deciduous and all permanent teeth.
abstract: We experienced a case with severe enamel defects of both the deciduous teeth and all the permanent teeth. In order to clarify the etiology of enamel defects in this patient, we performed a DNA analysis in addition to conventional examinations. Although we suspected a variety of systemic factors causing enamel defects, there was no evidence suggesting disturbances of amelogenesis. In the present case, we suspected a mutation in the amelogenin gene and performed nucleotide sequencing of the exons of the amelogenin gene, but we could not find any evidence of mutation. We suggest that a mutation of some other gene related to enamel formation or the adventitious factors contributed to the amelogenesis imperfecta in this case.
authors.affiliation: Department of Pediatric Dentistry, Tokyo Dental College, Chiba, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Sekiguchi
authors.forename: H
authors.initials: H
authors.lastname: Tanakamaru
authors.forename: K
authors.initials: K
authors.lastname: Minaguchi
authors.forename: Y
authors.initials: Y
authors.lastname: Machida
authors.forename: M
authors.initials: M
authors.lastname: Yakushiji
mesh_terms: D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D053523:Amelogenin; D004247:DNA / Q000235:genetics; D003744:Dental Enamel Hypoplasia / Q000235:genetics; D003746:Dental Enamel Proteins / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA; D014070:Tooth / Q000473:pathology*; D014094:Tooth, Deciduous / Q000473:pathology*
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins; D004247:DNA