Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning
Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning
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DOI：
10.1016/j.ajodo.2009.10.019
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发表时间：
2010-02-01
影响因子：
3
通讯作者：
Ackerman, James L.
中科院分区：
文献类型：
--
作者：
Frazier-Bowers, Sylvia A.;Simmons, Darrin;Ackerman, James L.
简介：原发性萌出失败（PFE）的特征是在没有机械阻塞的情况下恒牙的非综合征性萌出失败。最近的研究支持这种牙齿表型是遗传的，PTH 1 R基因突变解释了几个家族性PFE病例。我们的研究目的是探讨如何遗传分析可以与临床诊断信息，以改善正畸治疗PFE。方法：我们评估了一个家庭（n = 12），分离一个常染色体显性形式的PFE 5影响和7个未受影响的人。入组了9名可用的家庭成员（5名男性，4名女性），随后进行了临床和遗传学表征。结果：在该家系中，PFE与PTH 1 R基因的一个新突变分离。杂合子c. 1353-1 G>A序列改变引起假定的剪接位点突变和外显子15的跳跃，其在所有受影响的家族成员中与PFE表型分离。结论：PTH 1 R突变与正畸辅助萌出或牙齿移动的失败密切相关，因此应提醒临床医生在治疗PFE和强直牙齿时应采取类似的谨慎措施，即避免使用连续弓丝进行正畸治疗。(Am J Orthod Dentofacial Orthop 2010; 137：160. e1-160.e7）
Introduction: Primary failure of eruption (PFE) is characterized by nonsyndromic eruption failure of permanent teeth in the absence of mechanical obstruction. Recent studies support that this dental phenotype is inherited and that mutations in PTH1R genes explain several familial cases of PFE. The objective of our study was to investigate how genetic analysis can be used with clinical diagnostic information for improved orthodontic management of PFE. Methods: We evaluated a family (n = 12) that segregated an autosomal dominant form of PFE with 5 affected and 7 unaffected persons. Nine available family members (5 male, 4 female) were enrolled and subsequently characterized clinically and genetically. Results: In this family, PFE segregated with a novel mutation in the PTH1R gene. A heterozygous c. 1353-1 G>A sequence alteration caused a putative splice-site mutation and skipping of exon 15 that segregated with the PFE phenotype in all affected family members. Conclusions: A PTH1R mutation is strongly associated with failure of orthodontically assisted eruption or tooth movement and should therefore alert clinicians to treat PFE and ankylosed teeth with similar caution-ie, avoid orthodontic treatment with a continuous archwire. (Am J Orthod Dentofacial Orthop 2010; 137: 160. e1-160.e7)