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.
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)
出处
《实用口腔医学杂志》
CAS
CSCD
北大核心
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)。
关键词
EDA变异
选择性先天缺牙
表型分析
EDA genovariation
Selective tooth agenesis
Phenotype analysis