title: A nomenclature for X-linked amelogenesis imperfecta.
abstract: Mutations of the X-chromosome amelogenin gene (AMELX) are associated with amelogenesis imperfecta (AI) phenotypes (OMIM no. 301200). Currently, 12 different AMELX mutations have been identified in individuals with abnormal enamel characteristic of AI. A notable feature of AI is the variable clinical phenotype, spurring interest in genotype-phenotype correlations. It is important that researchers and clinicians have an informative and reliable means of reporting and communicating these molecular defects. Therefore, the purpose here was to present a systematic nosology for reporting the genomic, cDNA and protein consequences of AMELX mutations associated with AI. The proposed nomenclature adheres to conventions proposed for other conditions and can be adopted for the autosomal forms of AI as the molecular basis of these conditions becomes known.
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
authors.forename: P S
authors.initials: PS
authors.lastname: Hart
authors.forename: T C
authors.initials: TC
authors.lastname: Hart
authors.forename: J P
authors.initials: JP
authors.lastname: Simmer
authors.forename: J T
authors.initials: JT
authors.lastname: Wright
mesh_terms: D000567:Amelogenesis Imperfecta / Q000145:classification* / Q000235:genetics*; D053523:Amelogenin; D000595:Amino Acid Sequence; D001483:Base Sequence; D030541:Databases, Genetic; D003746:Dental Enamel Proteins / Q000737:chemistry / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012729:Sex Chromosome Aberrations; D009626:Terminology as Topic; D014960:X Chromosome / Q000235:genetics
chemical_list: C507199:AMELX protein, human; D053523:Amelogenin; D003746:Dental Enamel Proteins