Tremillo-Maldonado Omar, Molina-Frechero Nelly, González-González Rogelio, Bologna-Molina Ronell
Universidad Autónoma Metropolitana Unidad Xochimilco, Ciudad de México, México.
Universidad Juárez del Estado de Durango, Facultad de Odontología, Departamento de Investigación, Durango, México.
Gac Med Mex. 2019;155(1):101-107. doi: 10.24875/GMM.18003604.
Amelogenesis imperfecta is a group of developmental disorders of the dental enamel that is mainly associated with mutations in the AMELX gene. Clinically, it presents different phenotypes that affect the structure and function of dental enamel both in primary and secondary dentition. The purpose of this study was to conduct a literature review on the AMELX functions and mutations that are related to amelogenesis imperfecta. A literature search was carried out in two databases: PubMed and Web of Science, using the keywords "AMELX", "amelogenin", "amelogenesis imperfecta" and "AMELX mutation". Forty articles were reviewed, with AMELX being found to be the predominant gene in the development of dental enamel and amelogenesis imperfecta by altering the structure of amelogenin. In the past few years, the characteristics of the amelogenesis imperfecta process have been described with different phenotypes of hypoplastic or hypo-mineralized enamel, and different mutations have been reported, by means of which the gene sequencing and the position of mutations have been determined.
釉质发育不全是一组牙釉质发育障碍疾病，主要与AMELX基因突变有关。临床上，它呈现出不同的表型，影响乳牙和恒牙牙釉质的结构和功能。本研究的目的是对与釉质发育不全相关的AMELX功能和突变进行文献综述。使用关键词“AMELX”、“釉原蛋白”、“釉质发育不全”和“AMELX突变”在两个数据库（PubMed和Web of Science）中进行文献检索。共查阅了40篇文章，发现AMELX通过改变釉原蛋白的结构，是牙釉质发育和釉质发育不全的主要基因。在过去几年中，已经描述了釉质发育不全过程的特征，包括发育不全或矿化不足的釉质的不同表型，并且报道了不同的突变，通过这些突变确定了基因序列和突变位置。
