Genotype-phenotype analysis of non-syndromic tooth agenesis caused by WNT10A gene variation
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 fea-tures(such as gender,age,position and number of missing teeth)and related WNT10A variants were analyzed.Results:The 35 arti-cles reporting WNT10A related NSTA included 225 patients with 45 different mutations.The patients age ranged from 6 to 54,with fe-male 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 pre-molars and maxillary lateral incisors are the most prevalent missing teeth.There is a significant genotype-phenotype association in WNT10A related NSTA.
万方数据
维普
