Department of Orthodontics, University of North Carolina, Chapel Hill, NC, USA.
Am J Orthod Dentofacial Orthop. 2010 Feb;137(2):160.e1-7; discussion 160-1. doi: 10.1016/j.ajodo.2009.10.019.
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.
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.
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.
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.
原发性萌出失败（PFE）的特征是在没有机械阻塞的情况下，永久性牙齿出现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，并且 PTH1R 基因突变解释了 PFE 的几个家族病例。我们研究的目的是探讨遗传分析如何与临床诊断信息结合使用，以改善 PFE 的正畸管理。
我们评估了一个家族（n=12），该家族具有常染色体显性形式的 PFE，有 5 名受影响者和 7 名未受影响者。有 9 名可利用的家族成员（5 名男性，4 名女性）入组并随后进行了临床和遗传特征分析。
在这个家族中，PFE 与 PTH1R 基因中的一个新突变相关。杂合 c.1353-1 G>A 序列改变导致了一个推定的剪接位点突变，并跳过了外显子 15，该突变在所有受影响的家族成员中与 PFE 表型共分离。
PTH1R 突变与正畸辅助萌出或牙齿移动失败密切相关，因此应提醒临床医生在治疗 PFE 和固连牙时同样要小心，即避免使用连续弓丝进行正畸治疗。
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