不同基因突变的先天缺牙患者上颌切牙牙冠锥形程度的测量分析  

Measurement and analysis of the crown conical degree of maxillary incisors in patients with congenital tooth agenesis caused by different gene mutations

作　　者：丁佳楠 刘浩辰 余淼 刘洋[1] 韩冬[1] Ding Jianan;Liu Haochen;Yu Miao;Liu Yang;Han Dong(Department of Prosthodontics,Peking University School and Hospital of Stomatology&National Center for Stomatology&National Clinical Research Center for Oral Diseases&National Engineering Research Center of Oral Biomaterials and Digital Medical Devices&Beijing Key Laboratory of Digital Stomatology,Beijing 100081,China)

机构地区：[1]北京大学口腔医学院·口腔医院修复科、国家口腔医学中心、国家口腔疾病临床医学研究中心、口腔生物材料和数字诊疗装备国家工程研究中心、口腔数字医学北京市重点实验室,北京100081

出　　处：《中华口腔医学杂志》2023年第8期821-828,共8页Chinese Journal of Stomatology

基　　金：国家自然科学基金(81600846);国家重大疾病多学科合作诊疗能力建设项目(PKUSSNMP-202010)。

摘　　要：目的测量先天缺牙患者上颌余留切牙牙冠锥形程度,并分析不同基因突变对患者的牙冠锥形程度的影响。方法回顾性纳入2019年1月至2023年1月就诊于北京大学口腔医学院·口腔医院修复科的85例先天缺牙患者(先天缺牙组),其中男性50例,女性35例,年龄3~57岁,中位年龄19岁。对所有患者进行全外显子组测序分析致病基因突变,并在曲面体层X线片上测量上颌中切牙及侧切牙在切1/3和龈1/3处的牙冠宽度,计算两者的比值得出牙冠锥形程度值,该值越小,代表该牙牙冠形态越类似锥形。根据先天缺牙组患者的年龄及性别匹配,选择2019年1月至2023年1月就诊于北京大学口腔医学院·口腔医院修复科,无牙齿发育异常相关疾病且上颌恒切牙完好的85例其他患者为对照组。对先天缺牙组与对照组的牙冠锥形程度值进行t检验,使用单因素方差分析比较不同基因突变组的牙冠锥形程度值的差异,使用LSD方法进行各基因组别间的多重比较。结果85例先天缺牙组患者共有7种基因突变类型,包括外胚层发育不良A(ectodysplasin A,EDA)(20例)、EDA受体(EDA receptor,EDAR)(8例)、无翅型MMTV整合位点家族成员10A(wingless-type MMTV integration site family,member 10A,WNT10A)(15例)、配对盒9(paired box 9,PAX9)(16例)、Msh同源框1(Msh homeobox 1,MSX1)(10例)、低密度脂蛋白受体相关蛋白6(low-density lipoprotein receptor related protein 6,LRP6)(10例)和骨形态发生蛋白4(bone morphogenetic protein4,BMP4)(6例)。先天缺牙组患者的先天缺牙1~27颗,中位数15颗。先天缺牙组和对照组中左侧与右侧同名牙牙冠锥形程度值差异均无统计学意义(P>0.05)。先天缺牙组患者上颌中切牙和侧切牙牙冠的锥形程度值(0.95±0.24、0.90±0.22)均显著小于对照组(1.12±0.09、1.13±0.09)(t=-8.50,P<0.001;t=-11.47,P<0.001)。WNT10A突变患者的侧切牙锥形程度值(0.89±0.18)显著小于中切牙(1.07±0.15)(t=3.68,P<0.00Objective To measure the crown conical degree of the remaining maxillary incisors in patients with congenital tooth agenesis,and to analyze the influence of different gene mutations on the crown conical degree of patients.Methods Whole exome sequencing was performed on 85 patients with congenital tooth agenesis(50 males,35 females,median age 19 years old)who visited the Department of Prosthodontics,Peking University School and Hospital of Stomatology from January 2019 to January 2023.The pathogenic gene was identified.The width of the crowns of the maxillary central and lateral incisors at the incisal 1/3 and gingival 1/3 were measured on the panoramic radiograph,and the ratio was defined as the crown conical degree.The smaller the ratio is,the more likely is the crown to be peg shaped teeth.The control group was matched by age and gender with 85 other patients with intact maxillary permanent incisors who were treated in the Department of Prosthodontics,Peking University School and Hospital of Stomatology from January 2019 to January 2023.The conical degree of the tooth agenesis group was compared with the control group by t-test,and the differences in the crown conical degree in different gene mutation groups were compared using one-way analysis of variance,and the multiple comparisons among gene groups were carried out using the LSD method.Results Among the 85 tooth agenesis patients,the numbers of patients in each gene mutation group were 20 in ectodysplasin A(EDA)group,8 in ectodysplasin A receptor(EDAR)group,15 in wingless-type MMTV integration site family,member 10A(WNT10A)group,16 in paired box 9(PAX9)group,10 in Msh homeobox 1(MSX1)group,10 in low-density lipoprotein receptor related protein 6(LRP6)group,and 6 in bone morphogenetic protein4(BMP4)group.The number of missing teeth were 1-27,median number 15 among the tooth agenesis patients.There was no significant difference in the conical degree between the left and right homonymous teeth in the congenital tooth agenesis group and the control group(P>0.05

关 键 词：突变 放射摄影术 全景 全外显子组测序 先天缺牙 牙冠锥形程度 

分 类 号：R783.3[医药卫生—口腔医学]