Abstract
Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on mutations described in AI-related genes were obtained from HGMD® Professional. The data in relation to the mutations, inheritance, phenotype, type of AI and country were supplemented with information from the literature. The identity codes and frequency values were obtained from the dbSNP, ClinVar and OMIM databases. The percentage of specificity (PE) was determined for each gene.Results: HGMD® describes 27 genes involved in AI, which we propose to group into 5 categories: (1) genes whose mutations are associated only with isolated AI, (2) genes whose mutations cause only syndromic AI, (3) genes with both mutations that cause isolated AI and mutations responsible for other pathologies, (4) genes with mutations responsible for syndromic AI and mutations that cause other pathologies, and (5) genes with mutations that cause isolated AI and mutations that cause AI associated with syndromes and other pathologies. Using the PE calculation, the genes were ranked into 5 specificity groups. The genes of category 1 are specific for isolated AI, while the genes of categories 2 and 4 are non-specific. Interestingly, we observed that mutations in some genes were associated with different types of cancer.Conclusion: The ACP4, AMTN, MMP20, ODAPH, RELT, SLC24A4 and SP6 genes participate in causing isolated AI, and the CNNM4, DLX3 and FAM20A genes participate in causing syndromic forms of AI.
Highlights
Amelogenesis imperfecta (AI) is a group of hereditary malformations of dental development that affect the structure and chemical composition of the enamel of most teeth [1]
The interrogation of the HGMD R database for clinical phenotype amelogenesis imperfecta revealed that the following 27 genes were associated with this clinical phenotype: acid phosphatase 4 (ACP4), AMBN, AMELX, AMTN, CLDN16, CLDN19, CNNM4, COL17A1, DLX3, ENAM, family with sequence similarity 20 member A (FAM20A), family with sequence similarity 83 member H (FAM83H), G protein-coupled receptor 68 (GPR68), integrin subunit β6 (ITGB6), KLK4, laminin chain α3 (LAMA3), LAMB3, LTBP3, MMP20, odontogenesis-associated phosphoprotein (ODAPH), receptor expressed in lymphoid tissues (RELT), SLC10A7, solute carrier family 24 member A4 (SLC24A4), stromal interaction molecule 1 (STIM1), TP63, WD repeat–containing protein 72 (WDR72), and SP6
In some of the 27 genes whose mutations were inherited in an autosomal recessive manner, cases with compound heterozygous mutations were found, such as in CLDN19 (1/3), ACP4 (3/10), LTBP3 (2/7), MMP20 (7/24), AMBN, CLDN1 6 and ITGB6 (1/5), FAM20A (9/46), ODAPH (1/6), CNNM4 (5/31), WDR72 (3/19), 1HGVS: https://varnomen.hgvs.org/ 2dbSNP: https://www.ncbi.nlm.nih.gov/snp/ 3ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/ 4OMIM: https://www.ncbi.nlm.nih.gov/omim/?term=
Summary
Amelogenesis imperfecta (AI) is a group of hereditary malformations of dental development that affect the structure and chemical composition of the enamel of most teeth [1]. They occur during the process of odontogenesis, when tooth enamel is formed. This condition is rare, and the different kinds of AI have a combined prevalence ranging from 1/4,000 in Sweden to 1/14,000 in the United States, depending on the demographics of the population studied [1, 2]. Hypomature and hypocalcified AI are included in a single type called hypomineralized, and genetic testing is necessary to distinguish them [4]
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