Primary failure of eruption: Clinical and genetic findings in the mixed dentition
Primary failure of eruption: Clinical and genetic findings in the mixed dentition
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DOI：
10.2319/062717-430.1
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发表时间：
2018-05-01
影响因子：
3.4
通讯作者：
Frazier-Bowers, Sylvia A.
中科院分区：
文献类型：
--
作者：
Grippaudo, Cristina;Cafiero, Concetta;Frazier-Bowers, Sylvia A.
目的：为了测试的假设，甲状旁腺激素1受体（PTH 1 R）的突变，包括在初级和恒牙的影响，材料和方法：DNA提取唾液样本的29例（8个家族和21个散发）谁提出了临床证据的infloccluded牙齿，和他们的未受影响的亲属（N = 22）。结果：29例患者中有8例PTH 1 R基因存在杂合子致病性变异，与dbSNP、HGMD和ESP数据库比较，其中5例突变明显。一个突变（C。1765 T>C p.Trp89Arg）在一个家系内分离（n = 3）。所有变体的计算机模拟分析显示了推定的致病作用。甲基因型-表型相关性的定义为PTH 1 R的功能突变和相应的影响，一个或多个后牙只;单边或双边参与，infraoccluded乳牙。结论：新的突变报告PTH 1 R基因，其中包括PFE影响的乳磨牙，从而提供了使用遗传诊断工具进行早期诊断的基础，导致适当的管理。
Objective: To test the hypothesis that mutations in the parathyroid hormone 1 receptor (PTH1R) include effects in both primary and permanent teeth.Materials and Methods: DNA was extracted from saliva samples of 29 patients (8 familial and 21 sporadic) who presented with clinical evidence of infraoccluded teeth, and their unaffected relatives (N = 22). Sequencing followed by mutational analysis of the coding regions of PTH1R gene was completed for all individuals (N = 29).Results: Eight of 29 cases revealed a heterozygous pathogenic variant in the PTH1R gene; five of eight variants represented distinct mutations based on comparison with the dbSNP, HGMD, and ESP databases. One mutation (c. 1765 T>C p. Trp89Arg) was found to segregate within a family (n = 3). In silico analyses for all variants revealed a putative pathogenic effect. A genotype-phenotype correlation was reported as defined by a functional mutation in PTH1R and corresponding effects on one or more posterior teeth only; unilateral or bilateral involvement, infraoccluded primary teeth.Conclusions: Novel mutations were reported in the PTH1R gene that included PFE-affected primary molars, thus providing the basis for using a genetic diagnostic tool for early diagnosis leading to proper management.