Mao S Y, Duan X H
Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Diseases, Shaanxi Key Laboratory of Stomatology, Xi'an 710032, China.
Zhonghua Kou Qiang Yi Xue Za Zhi. 2023 Sep 9;58(9):933-937. doi: 10.3760/cma.j.cn112144-20230318-00094.
FAM83H is one of the major pathogenic genes of amelogenesis imperfecta (AI). Previous studies focused on the abnormal enamel development and mineralization caused by the mutations in FAM83H. Here we aimed to observe other effects of FAM83H mutations on tooth eruption besides AI through clinical case analysis. Published AI cases with FAM83H mutations were searched through PubMed database, and the characteristics of tooth eruption of each cases were counted and analyzed. The literature search range was from January 1, 2008 to February 28, 2023, using the keywords FAM83H and amelogenesis imperfecta. The included literature must provide the detailed radiographic imaging or dental eruption information of AI patients, as well as FAM83H gene mutation information. The basic clinical information, tooth phenotypes, and mutations of all the enrolled cases were collected and analyzed in order to find the characteristics of abnormal tooth eruption. Among 45 papers about FAM83H related to AI, twenty meeting the inclusion criteria were selected, involving 50 AI patients carrying FAM83H mutations who had radiographic image data or the detailed description of tooth eruption. A total of 34 abnormal erupted teeth were from 12 patients (12/50, 24%), among which 85% (29/34) had clear eruption path without any eruption obstructions, either embedded (25/34, 74%) or partially erupted (4/34, 12%). Tooth position analysis found that abnormal eruption of canines and second molars accounted for the highest proportion, accounting for 38% (13/34) respectively. The mutations in FAM83H may lead to amelogenesis imperfecta as well as abnormal tooth eruption at specific tooth positions.
FAM83H是牙釉质发育不全（AI）的主要致病基因之一。以往的研究主要关注FAM83H突变引起的牙釉质发育和矿化异常。在此，我们旨在通过临床病例分析观察FAM83H突变除AI外对牙齿萌出的其他影响。通过PubMed数据库检索已发表的携带FAM83H突变的AI病例，并对每个病例的牙齿萌出特征进行计数和分析。文献检索范围为2008年1月1日至2023年2月28日，使用关键词FAM83H和牙釉质发育不全。纳入的文献必须提供AI患者详细的影像学检查或牙齿萌出信息，以及FAM83H基因突变信息。收集并分析所有纳入病例的基本临床信息、牙齿表型和突变情况，以找出牙齿萌出异常的特征。在45篇与AI相关的关于FAM83H的论文中，筛选出20篇符合纳入标准的论文，涉及50例携带FAM83H突变且有影像学图像数据或牙齿萌出详细描述的AI患者。共有34颗异常萌出的牙齿来自12例患者（12/50，24%），其中85%（29/34）萌出路径清晰，无任何萌出障碍，要么是埋伏阻生（25/34，74%），要么是部分萌出（4/34，12%）。牙齿位置分析发现，犬齿和第二磨牙的异常萌出比例最高，分别占38%（13/34）。FAM83H突变可能导致牙釉质发育不全以及特定牙齿位置的牙齿萌出异常。
