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. To date, mutations of 18 genes have been associated as the etiology of non-syndromic AI. This study aims to update the current knowledge on the ENAM, AMBN, FAM83H, MMP20, and KLK4 genes that cause the different types of AI. Methodology: The literature review included scientific articles from 2003 to 2021 on specific mutations in the genes mentioned above. SciELO, Pubmed/MEDLINE, Cochrane, and Springer Link were the databases selected. Results: Thirty-seven articles met the inclusion criteria and were used for this review. Conclusions: Enamel alterations can have a variety of characteristics depending on the gene involved. The biological mechanisms that lead to the disease are multiple and varied; however, many of them are not entirely clear yet, so more research is necessary to improve our understanding of the subject.

Automated summary

Amelogenesis imperfecta is a genetic disorder affecting tooth enamel structure and clinical appearance, with mutations in 18 genes implicated in non-syndromic AI. Specific mutations in ENAM, AMBN, FAM83H, MMP20, and KLK4 genes have been associated with different types of AI, highlighting the need for further research to understand the underlying biological mechanisms.