Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta

Maria Lagerström-fermér, Mats Nilsson, Birgitta Bäckman, Eduardo Salido, Larry Shapiro, Ulf Pettersson, Ulf Landegren

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    Abstract

    Formation of tooth enamel is a poorly understood biological process. In this study we describe a 9-bp deletion in exon 2 of the amelogenin gene (AMGX) causing X-linked hypoplastic amelogenesis imperfecta, a disease characterized by defective enamel. The mutation results in the loss of 3 amino acids and exchange of 1 in the signal peptide of the amelogenin protein. This deletion in the signal peptide probably interferes with translocation of the amelogenin protein during synthesis, resulting in the thin enamel observed in affected members of the family. We compare this mutation to a previously reported mutation in the amelogenin gene that causes a different disease phenotype. The study illustrates that molecular analysis can help explain the various manifestations of a tooth disorder and thereby provide insights into the mechanisms of tooth enamel formation.

    Original languageEnglish
    Pages (from-to)159-162
    Number of pages4
    JournalGenomics
    Volume26
    Issue number1
    DOIs
    StatePublished - Mar 1 1995

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