WNT10A基因突变导致非综合征型先天缺牙的表型与基因型分析

口腔生物医学 ›› 2024, Vol. 15 ›› Issue (4): 206-211.

WNT10A基因突变导致非综合征型先天缺牙的表型与基因型分析

许涛云¹,郭新月¹,段小红²

1. 空军军医大学第三附属医院口腔生物学教研室
2. 军事口腔医学国家重点实验室，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，口腔罕见病与遗传病门诊

收稿日期:2024-02-01 修回日期:2024-03-08 出版日期:2024-08-25 发布日期:2024-08-27
通讯作者: 段小红 E-mail:xhduan@fmmu.edu.cn
基金资助:
国家自然科学基金;陕西省重点研发计划;国家口腔疾病临床医学研究中心专项课题

Genotype-phenotype analysis of non-syndromic tooth agenesis caused by WNT10A gene variation

Received:2024-02-01 Revised:2024-03-08 Online:2024-08-25 Published:2024-08-27

摘要/Abstract

摘要： 目的：分析WNT10A基因突变所导致非综合征型先天缺牙（NSTA）的临床表型特点及其与基因型的关系。方法：在PubMed数据库检索2007年1月至2023年12月发表的WNT10A突变相关NSTA文献，由两名研究者按照纳排标准独立筛选并提取数据，主要分析病例的临床表型特点（包括性别、年龄、缺牙部位、缺牙数目）和基因突变位点特征。结果：共纳入35篇文献及225例患者和45种WNT10A突变。患者年龄分布在6～54岁之间，女性患者多于男性，平均缺牙数为9.5颗，以Ⅱ型先天缺牙（多数牙先投缺失）为主，主要缺牙部位为下颌及上颌第二前磨牙和上颌侧切牙，左右同名牙常同时缺失，c.682T＞A（p.Phe228Ile）突变最常见。结论：WNT10A突变导致的先天缺牙具有选择性，最常导致下颌第二前磨牙、上颌第二前磨牙和上颌侧切牙缺失，且存在基因型和表型之间的显著关联

关键词: WNT10A, 基因突变, 非综合征型先天缺牙, 选择性, 表型

Abstract: Objective:?To clarify the phenotype-genotype correlations of non-syndromic tooth agenesis (NSTA) caused by WNT10A gene mutation. Methods:?We retrieved literature on WNT10A related NSTA from PubMed database between January 2007 to December 2023. This process was conducted by two researchers independently and followed the exclusion and inclusion criteria. The clinical features (such as gender, age, position and number of missing teeth) and related WNT10A variants were analyzed. Results: The 35 articles reporting WNT10A related NSTA included 225 patients with 45 different mutations. The patients age ranged from 6 to 54, with female being more affected than male. Oligodontia was found in most patients and the average number of missing teeth was 9.5. The most prevalent missing teeth were the mandibular second premolar, maxillary second premolar and maxillary lateral incisor, with the same teeth in opposite side frequently affected at the same time. And the c. 682T＞A (p. Phe228Ile) mutation was the most common ones. Conclusions:?The mutations in WNT10A cause selective tooth agenesis. And the mandibular second premolars，maxillary second premolars and maxillary lateral incisors are the most prevalent missing teeth. There is a significant genotype-phenotype association in WNT10A related NSTA.

Key words: WNT10A, Gene mutation, Non-syndromic tooth agenesis, Selective, Phenotype

许涛云郭新月段小红. WNT10A基因突变导致非综合征型先天缺牙的表型与基因型分析[J]. 口腔生物医学, 2024, 15(4): 206-211.

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