Investigation of the cause of the hereditary amelogenesis imperfectaand planning of the genetic diagnosis.

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We performed nucleotide mutation analyses covering the coding exons, adjoining intron and the promoter region sequences for the seven proven amelogenesis imperfacta candidate genes and for two suspected candidate genes. Mut ations were identified in twelve. Except for the mutation that causes the amino acid substitution from Pro to Leu (P724L) in the ENAM gene, no disease-causing mutations were found because some of them were synonymous mutation and the others were non -synonymous mutations previously reported as polymorphisms. The P724L mutation in the ENAM gene may be a new candidate and it is necessary to investigate details.