摘要目的:通过分析FAM83H基因突变导致遗传性牙釉质发育不全（amelogenesis imperfecta，AI）病例的牙萌出异常特征，揭示FAM83H基因可能存在的新表型和新功能，为精准诊治AI等遗传性疾病奠定基础。方法:通过PubMed数据库检索已发表的FAM83H突变导致的AI病例，检索关键词为“（FAM83H）AND（amelogenesis imperfecta）”，文献发表时间为2008年1月1日至2023年2月28日。文献纳入标准为能够提供患者详细的影像学资料或牙萌出信息以及FAM83H基因突变资料。收集文献来源的每位患者的基本信息、牙齿表型特征和突变基因信息，分析和总结其牙萌出异常的部位和数量特征。结果:在检索到的45篇相关文献中，20篇符合纳入标准，并提供了50例具有影像学资料或牙萌出详细资料、携带FAM83H突变的AI患者的相关信息，共有12例（24%）患者出现了牙萌出异常，累计34颗患牙，其中85%（29/34）的患牙无任何萌出阻力，为埋伏牙［74%（25/34）］或部分萌出［12%（4/34）］。牙位分析发现，尖牙和第二磨牙萌出异常占比最高，均占38%（13/34）。结论:FAM83H基因突变导致AI的同时，还可引起特定牙位牙萌出异常。

abstractsObjective: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.Methods: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.Results: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.Conclusions:The mutations in FAM83H may lead to amelogenesis imperfecta as well as abnormal tooth eruption at specific tooth positions.