title: Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.
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.
authors.affiliation: Department of Medical Genetics, Biomedical Center, University of Uppsala, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Lagerström-Fermér
authors.forename: M
authors.initials: M
authors.lastname: Nilsson
authors.forename: B
authors.initials: B
authors.lastname: Bäckman
authors.forename: E
authors.initials: E
authors.lastname: Salido
authors.forename: L
authors.initials: L
authors.lastname: Shapiro
authors.forename: U
authors.initials: U
authors.lastname: Pettersson
authors.forename: U
authors.initials: U
authors.lastname: Landegren
mesh_terms: D000567:Amelogenesis Imperfecta / Q000209:etiology / Q000235:genetics*; D053523:Amelogenin; D001483:Base Sequence; D003743:Dental Enamel / Q000502:physiology; D003746:Dental Enamel Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D021382:Protein Sorting Signals / Q000235:genetics*
chemical_list: D053523:Amelogenin; D003746:Dental Enamel Proteins; D021382:Protein Sorting Signals