PAX9突变非综合征型先天缺牙患者的缺牙表型分析

PAX9 mutation phenotype analysis in patients with non-syndromic tooth agenesis

目的:探讨PAX9突变相关的临床表型,并尝试分析PAX9突变患者的恒牙先天缺失分布特征。方法:从Pubmed数据库检索截止至2018年2月的相关文献,文献报道了明确为PAX9突变导致先天缺牙的病例,将其缺失牙位记录汇总,进一步分析缺牙表现及对比不同牙位缺失率。结果:PAX9突变导致先天缺牙基本呈左右对称,故合并进一步分析。在不计第三磨牙情况下,第二磨牙缺失率(上颌:78. 8%;下颌:79. 2%)最高,上颌中切牙(5. 4%)、下颌尖牙(4. 6%)及下颌第一前磨牙(5. 0%)缺失率最低;除了第二磨牙外,其余牙位上下颌缺失率有统计学差异;上颌侧切牙为PAX9突变导致牙齿形态异常的好发牙位。结论:PAX9突变的表型分析明确了突变导致的缺牙表型特征,并有助于了解PAX9在牙齿发育中的作用。

Objective:To analyze the phenotype of tooth missing pattern in patients with PAX9 mutation and try to associate the mutation and pattern of tooth agenesis.Method:PAX9 mutation in patients with tooth agenesis and reported before Feb 2018 were enrolled.The mutant sites,nucleotide and amino acid changes,mutation types and missing teeth were recorded to further analyze the pattern of missing teeth and compare the missing rates of different teeth.Result:There was no statistic difference in the number of missing teeth between left and right sides,so the number from both sides were combined in later analysis.Regardless of the third molar,the missing rate of the second molars is the highest(maxillary:78.8%;mandibular:79.2%),while the maxillary central incisors(5.4%),mandibular canines(4.6%)and first premolars(5.0%)are the lowest.Except for the second molar,there are statistical differences in the missing rate of the upper and lower teeth.Besides,the maxillary lateral incisor is the predisposing position of morphology anomalies in PAX9 mutation.Conclusion:Phenotype analysis of PAX9 mutation clarified the pattern of tooth agenesis caused by mutation,and it is helpful to understanding the role of PAX9 plays in tooth development.