Primary Failure of Eruption (PFE) – Clinical and Molecular Genetics Analysis

Stellzig‐Eisenhauer, Angelika; Decker, Eva L.; Meyer-Marcotty, Philipp; Rau, Christiane; Fiebig, Britta; Kreß, Wolfram; Saar, Kathrin; Rüschendorf, Franz; Hübner, Norbert; Grimm, Tiemo; Witt, E.; Weber, Bernhard H. F.

doi:10.1007/s00056-010-0908-9

Cited by 47 publications

(39 citation statements)

References 27 publications

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“…It was speculated to be familial in nature (Frazier-Bowers et al, 2007), but the cause was unknown until recently, where the causative gene was identified as PTHR1 (Decker et al, 2008). While the true incidence of PFE is unknown, it has been estimated to occur in approximately 0.6% of the population (Stellzig-Eisenhauer et al, 2010).…”

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confidence: 99%

Novel Mutations in PTH1R Associated with Primary Failure of Eruption and Osteoarthritis

et al. 2013

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Autosomal dominant mutations in PTH1R segregate with primary failure of eruption (PFE), marked by clinical eruption failure of adult teeth without mechanical obstruction. While the diagnosis of PFE conveys a poor dental prognosis, there are no reports of PFE patients who carry PTH1R mutations and exhibit any other skeletal problems. We performed polymerase chain reaction-based mutational analysis of the PTH1R gene to determine the genetic contribution of PTH1R in 10 families with PFE. Sequence analysis of the coding regions and intron-exon boundaries of the PTH1R gene in 10 families (n = 54) and 7 isolated individuals revealed 2 novel autosomal dominant mutations in PTH1R (c.996_997insC and C.572delA) that occur in the coding region and result in a truncated protein. One family showed incomplete penetrance. Of 10 families diagnosed with PFE, 8 did not reveal functional (nonsynonymous) mutations in PTH1R; furthermore, 4 families and 1 sporadic case carried synonymous single-nucleotide polymorphisms. Five PFE patients in 2 families carried PTH1R mutations and presented with osteoarthritis. We propose that the autosomal dominant mutations of PTH1R that cause PFE may also be associated with osteoarthritis; a dose-dependent model may explain isolated PFE and osteoarthritis in the absence of other known symptoms in the skeletal system.

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confidence: 99%

Novel Mutations in PTH1R Associated with Primary Failure of Eruption and Osteoarthritis

et al. 2013

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“…Second mandibular molar was only involved in 5% of the cases, retention of mandibular first and second molars are extremely rare and odontomas suggest to be the only cause (14). In our case mandibular second molar was missing and the impacted tooth assumed as the third molar by considering its crown and root formation.…”

Section: Discussionmentioning

confidence: 63%

Surgical Treatment of a Large Complex Odontoma

Cezairli¹,

Taskesen²,

Çoşkun³

et al. 2017

meandros

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The treatment modalities for odontomas are generally depend on the tumors size. Small and medium lesions can usually be removed easily allowing preservation of surrounding anatomical structures. In our study, we reported a conservative surgical treatment of a large complex odontoma. A 19-year-old woman was referred to our clinic after an incidentally observed lesion on her right mandibular angle. The patient was symptom-free at the time of visit. Computed tomography (CT) images showed a mass with a size of 3.5 cm x 3 cm x 2 cm. CT sections and tridimensional images showed partially eroded buccal and lingual cortex. Surgical treatment was indicated with an initial diagnosis of compound odontoma. The lesion removed after sectioning with bur and maxillo-mandibular fixation (MMF) were not thought to be necessary while the buccal and lingual cortexes were mostly reliable for preventing a fracture. In our case, the size of the odontoma was suitable for a conservative treatment method and with this modality we managed to prevent a possible fracture and eliminate the disadvantages of MMF.Odontomaların tedavi yöntemleri genellikle tümör boyutuna bağlıdır. Küçük ve orta boyuttaki lezyonlar genellikle çevredeki anatomik yapılara zarar vermeden kolaylıkla çıkarılabilir. Çalışmamızda dev bir odontomanın konservatif bir şekilde cerrahi tedavisi ele alınmaktadır. On dokuz yaşındaki kadın hasta, sağ mandibular angulusta radyolojik muayene sırasında fark edilen bir lezyon sonrasında kliniğimize sevk edildi. Hasta, muayene esnasında semptomsuzdu. Bilgisayarlı tomografi (BT) görüntüleri 3,5 cm x 3 cm x 2 cm boyutlarında bir kitleyi gösterdi. BT kesitleri ve üç boyutlu görüntülerde kısmen aşınmış bukkal ve lingual korteks görüldü. Kompound odontoma tanısı koyulan lezyonun cerrahi yaklaşımla tedavi edilmesine karar verildi. Bukkal ve lingual kortekslerin kırığı önlemede yeterli kalınlıkta olduğu olguda freze edilerek parçalar halinde uzaklaştırılan lezyon sonrasında maksillo-mandibular fiksasyon (MMF) gibi yöntemlerin gerekli olmadığı düşünüldü. Bizim olgumuzda, odontomun büyüklüğü konservatif bir tedavi yöntemi için olmasıyla beraber hem olası bir fraktür önlemiş hem de MMF'nin dezavantajlarını ortadan kaldırılmıştır.

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“…Au niveau chirurgical, des ostéotomies subapicales peuvent être réali-sées. En cas d'échec, les avulsions des dents atteintes de DPE provoquent d'importants défauts osseux, une greffe osseuse sera alors nécessaire en cas de solution implantaire [5,28,29]. On peut également s'interroger sur la possibilité d'avulsion et d'autotransplantation dentaire à distance.…”

Section: Discussionunclassified

Un contexte familial de défaut primaire d’éruption (DPE): identification d’une nouvelle mutation du gène PTHR-1. Cas clinique et revue de littérature

Quinque

Clauss

Siebert

et al. 2016

Med Buccale Chir Buccale

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Résumé -Introduction :Le défaut primaire d'éruption désigne l'échec de l'éruption d'une dent permanente postérieure non ankylosée en l'absence d'une obstruction d'origine mécanique. Une anomalie des processus biologiques de l'éruption dentaire, d'origine génétique, constitue le mécanisme étiologique. Elle est la conséquence de la mutation du gène codant pour le récepteur de l'hormone parathyroïdienne PTHR-1. Observation : Le cas rapporté décrit un défaut primaire d'éruption dans le cadre d'une fratrie de deux enfants. Les manifestations cliniques sont une infraclusion latérale sévère à droite dans un contexte de classe I tendance classe III par brachygnathie. Le diagnostic génétique a mis en évidence une mutation du gène PTHR-1. Discussion : Toute tentative de traction chirurgico-orthodontique d'une dent atteinte de DPE s'expose à un échec de traction voire une aggravation de l'inclusion ou une évolution vers l'ankylose. Conclusion : Un diagnostic positif précoce est donc essentiel en cas d'échec primaire d'éruption. Il est basé sur différents critères diagnostiques cliniques, radiologiques et moléculaires.Abstract -A novel PTHR-1 gene mutation in a context of familial primary failure of eruption: case report and literature review. Introduction: Primary failure of eruption is characterized by the failure of eruption of a posterior permanent tooth in the absence of mechanical obstruction. An abnormality of the biological processes of tooth eruption linked to a genetic mutation is the etiologic mechanism. It is the result of mutation of the gene encoding for the parathyroid hormone receptor PTHR-1. Observation: We report a case of primary failure of eruption of two children in a family. The clinical report describes a severe infraclusion on the right side in a context of Class I tendency Class III by maxillary hypoplasia. Molecular diagnosis based on the use of a DNA chip revealed a PTHR-1 gene mutation. Discussion: Since any orthodontic treatment results in traction failure, a worsening inclusion or ankylosis, an early positive diagnosis is essential in cases of primary failure of eruption. Conclusion: There are several criteria for clinical diagnosis, radiological and genetic, to identify these cases.

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Primary Failure of Eruption (PFE) – Clinical and Molecular Genetics Analysis

Cited by 47 publications

References 27 publications

Novel Mutations in PTH1R Associated with Primary Failure of Eruption and Osteoarthritis

Novel Mutations in PTH1R Associated with Primary Failure of Eruption and Osteoarthritis

Surgical Treatment of a Large Complex Odontoma

Un contexte familial de défaut primaire d’éruption (DPE): identification d’une nouvelle mutation du gène PTHR-1. Cas clinique et revue de littérature

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