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  • Title: A nomenclature for X-linked amelogenesis imperfecta.
    Author: Hart PS, Hart TC, Simmer JP, Wright JT.
    Journal: Arch Oral Biol; 2002 Apr; 47(4):255-60. PubMed ID: 11922868.
    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.
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