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

VernacularTitle:EDA变异导致选择性先天缺牙的表型分析
Author: Xinyue GUO ¹ ; Taoyun XU ; Xiaohong DUAN
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1. 710032 西安,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
Keywords: EDA genovariation; Selective tooth agenesis; Phenotype analysis
From: Journal of Practical Stomatology 2024;40(1):71-75
CountryChina
Language:Chinese
Abstract: Objective:To analyze the dental phenotypes of patients with EDA genovariation related selective tooth agenesis.Meth-ods: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 a-genesis mainly affects mandibular incisors(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.