Molecular mechanisms of amelogenesis imperfecta. A review of the ENAM, AMBN, FAM83H, MMP20 and KLK4 genes

Amelogenesis imperfecta (AI) is an inherited disorder that affects the structure and clinical appearance of tooth enamel. Mutations of 18 genes have been associated as the etiology of AI. The objective of this work is to update the current knowledge about ENAM, AMBN, FAM83H, MMP20 and KLK4 genes that cause the different types of AI. Methodology: A bibliographic search was carried out considering scientific articles from 2003 to 2021 with regard to specific mutations in the aforementioned genes in the following portals: scielo, Pubmed / MEDLINE, Cochrane and Springer Link. Results: 37 articles met the inclusion criteria and were used for the development of this review. Conclusions: Depending on the gene involved, enamel alterations can show a variety of characteristics. The biological mechanisms that lead to the disease are multiple and varied, however many of them are not entirely clear yet, so more research will be required to improve our understanding of the subject.

Automated summary

Amelogenesis imperfecta (AI) is a genetic disorder caused by mutations in 18 genes, affecting the structure and clinical appearance of tooth enamel. Enamel alterations vary depending on the gene involved, indicating the complexity of the disease.