Primary failure of eruption: Further characterization of a rare eruption disorder

Frazier‐Bowers, Sylvia A.; Koehler, Karen E.; Ackerman, Jamés S.; Proffit, William R.

doi:10.1016/j.ajodo.2006.09.038

Cited by 90 publications

(122 citation statements)

References 16 publications

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“…Previous studies in our laboratory (Frazier-Bowers et al, 2007;Proffit and Frazier-Bowers, 2009;Frazier-Bowers et al, 2010) and others (Decker et al, 2008) have confirmed the heritability of PFE and the association with mutations in PTH1R. Our analysis of a PFE cohort reveals that there are multiple families and individuals with PFE who do not carry functional mutations in the PTH1R gene, suggesting either that additional genes are responsible for PFE or that regulatory noncoding regions may be altered.…”

Section: Discussionmentioning

confidence: 58%

“…PFE is characterized by eruption failure of permanent teeth in the absence of mechanical obstruction (i.e., dental cyst or adjacent tooth) and affected teeth that do not respond to orthodontic force. 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%

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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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Section: Discussionmentioning

confidence: 58%

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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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“…Cependant, un examen génétique complémentaire reste indispensable. De plus, de nombreux auteurs insistent sur l'importance et la validité des caractéristiques cliniques et radiologiques établies avant tout diagnostic génétique [8,9,12,20]. Nos données complètent le nombre de mutations du PTHR-1 connues causant des DPE.…”

Section: Resultsunclassified

“…Le DPE peut être classé en trois types selon le système de Frazier-Bowers [9] : -I : Open-Bite avec évolution antéro-postérieure progressive ; -II : Open-Bite non progressif avec expression plus variable ; -III : Combinaison des types I et II. Dans notre cas, il s'agissait d'un type II puisque la première molaire présentait une infraclusion plus sévère que la deuxième molaire.…”

Section: Discussionunclassified

“…Cette mutation a été retrouvée chez plusieurs membres d'une fratrie [3,[5][6][7]. Il a été rapporté que, dans 10 à 40 % des cas, un contexte familial est retrouvé [4,[7][8][9]. Ces études ont évoqué la possibilité d'un diagnostic moléculaire consistant en la recherche de mutations sur le gène PTHR-1 situé sur le locus chromosomique 3p22-p21.1, en complément des éléments cliniques [6].…”

Section: Introductionunclassified

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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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Tooth eruption and alveolar bone formation: abnormal patterns including syndromes

2016

Etiology‐Based Dental and Craniofacial Diagnostics

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Primary failure of eruption: Further characterization of a rare eruption disorder

Cited by 90 publications

References 16 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

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

Tooth eruption and alveolar bone formation: abnormal patterns including syndromes

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