title: The molecular etiologies and associated phenotypes of amelogenesis imperfecta.
abstract: The amelogenesis imperfectas (AIs) are a clinically and genetically diverse group of conditions that are caused by mutations in a variety of genes that are critical for normal enamel formation. To date, mutations have been identified in four genes (AMELX, ENAM, KLK4, MMP20) known to be involved in enamel formation. Additional yet to be identified genes also are implicated in the etiology of AI based on linkage studies. The diverse and often unique phenotypes resulting from the different allelic and non-allelic mutations in these genes provide an opportunity to better understand the role of these genes and their related proteins in enamel formation. Understanding the AI phenotypes also provides an aid to clinicians in directing molecular studies aimed at delineating the genetic basis underlying these diverse clinical conditions. Our current knowledge of the known mutations and associated phenotypes of the different AI subtypes are reviewed.
authors.affiliation: Department of Pediatric Dentistry, School of Dentistry, The University of North Carolina, Chapel Hill, North Carolina 27599, USA. tim_wright@dentistry.unc.edu
authors.forename: J Timothy
authors.initials: JT
authors.lastname: Wright
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology*; D005799:Genes, Dominant; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007610:Kallikreins / Q000235:genetics / Q000378:metabolism; D053519:Matrix Metalloproteinase 20 / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D021382:Protein Sorting Signals
chemical_list: D021382:Protein Sorting Signals; D007610:Kallikreins; C120801:kallikrein 4; C507111:MMP20 protein, human; D053519:Matrix Metalloproteinase 20