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Journal of Dental Research
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CRITICAL REVIEWS IN ORAL BIOLOGY & MEDICINE

Genes and Related Proteins Involved in Amelogenesis Imperfecta

G. Stephanopoulos1, M.-E. Garefalaki2 and K. Lyroudia3,*

1 Diploma in Dental Science, Aristotle University of Thessaloniki, Greece;
2 Diploma in Biology, Aristotle University of Thessaloniki, Greece; and
3 Department of Endodontology, Dental School, Aristotle University of Thessaloniki, 23, Papafi Str., 54638 Thessaloniki, Greece

Correspondence: * corresponding author, lyroudia{at}zeus.csd.auth.gr

Dental enamel formation is a remarkable example of a biomineralization process. The exact mechanisms involved in this process remain partly obscure. Some of the genes encoding specific enamel proteins have been indicated as candidate genes for amelogenesis imperfecta. Mutational analyses within studied families have supported this hypothesis. Mutations in the amelogenin gene (AMELX) cause X-linked amelogenesis imperfecta, while mutations in the enamelin gene (ENAM) cause autosomal-inherited forms of amelogenesis imperfecta. Recent reports involve kallikrein-4 (KLK4), MMP-20, and DLX3 genes in the etiologies of some cases. This paper focuses mainly on the candidate genes involved in amelogenesis imperfecta and the proteins derived from them, and reviews current knowledge on their structure, localization within the tissue, and correlation with the various types of this disorder.

Key Words: amelogenesis imperfecta • kallikrein-4 • enamelin • amelogenin • DLX3

Journal of Dental Research, Vol. 84, No. 12, 1117-1126 (2005)
DOI: 10.1177/154405910508401206
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