EDA变异导致选择性先天缺牙的表型分析  

Dental phenotype analysis of patients with EDA genovariation related selective tooth agenesis

作　　者：郭新月 许涛云 段小红 GUO Xinyue;XU Taoyun;DUAN Xiaohong(State Key Laboratory of Oral&Maxillofacial Reconstruction and Regeneration,National Clinical Research Center for Oral Diseases,Shaanxi Key Laboratory of Stomatology,Department of Oral Biology,Clinic of Oral Rare and Genetic Diseases,The Third Hospital Affiliated of Air Force Military Medical University,China,Xi'an 710032)

机构地区：[1]口颌系统重建与再生全国重点实验室,国家口腔疾病临床医学研究中心,陕西省口腔医学重点实验室,空军军医大学第三附属医院口腔生物学教研室和口腔罕见病与遗传病门诊,西安710032

出　　处：《实用口腔医学杂志》2024年第1期71-75,共5页Journal of Practical Stomatology

基　　金：国家自然科学基金(编号:81974145,82370907);陕西省重点研发计划(编号:2021ZDLSF02-13);国家口腔疾病临床医学研究中心专项课题(编号:LCC202201)。

摘　　要：目的:探讨EDA基因变异导致选择性先天缺牙的表型特征。方法:从PubMed及多个中文数据库检索截止2023年4月已发表的EDA变异导致的选择性先天缺牙病例,分析缺牙数目、不同牙位缺失率并对比男女患者表型特征。结果:EDA基因变异导致的选择性先天缺牙好发于下颌中切牙(47.7%)及上下颌侧切牙(41.6%, 40.1%),较少累及磨牙。男性较女性易患病,且男性缺牙严重程度显著高于女性。结论:EDA变异的表型分析有助于医生从缺牙表型预测致病基因并开展遗传咨询。Objective:To analyze the dental phenotypes of patients with EDA genovariation related selective tooth agenesis.Methods:We summarized the selective tooth agenesis patients with EDA genovariation,based on literature published before April 2023.The literature search was conducted using PubMed and multiple Chinese databases.The total number and the percentages of missing teeth were analyzed.The dental phenotype between male and female patients were compared.Results:EDA related selective tooth agenesis mainly affects mandibular incisor s(47.7%),mandibular and maxillary lateral incisors(41.6%and 40.1%respectively),while molars are seldom affected.Additionally,male patients were more affected than female and have more missing teeth.Conclusion:Dental phenotype analysis of EDA variants might contribute to precise prediction of causative genes from phenotype of missing teeth and guide for genetic counseling.

关 键 词：EDA变异 选择性先天缺牙 表型分析 

分 类 号：R78[医药卫生—口腔医学]