Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning

Frazier‐Bowers, Sylvia A.; Simmons, Darrin; Wright, J. Timothy; Proffit, William R.; Ackerman, Jamés S.

doi:10.1016/j.ajodo.2009.10.019

Cited by 94 publications

(98 citation statements)

References 18 publications

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“…In addition, Jansen metaphyseal chondrodysplasia (OMIM: 156400) enchondromatosis (OMIM: 166000), and Eiken syndrome (OMIM: 600002)-all of which include a cartilage or skeletal dysplasia-are caused by autosomal recessive or dominant mutations in PTHR1 Duchatelet et al, 2005). Our group and others have found that autosomal dominant mutations in PTH1R cause PFE (Decker et al, 2008;Frazier-Bowers et al, 2010). The phenotype is thought to be due to haploinsufficiency of the gene product.…”

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

et al. 2013

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“…7 Recently, mutation in parathyroid hormone receptor 1 has also been identified as an etiologic factor. 8 Tooth transposition is defined as the positional interchange of two adjacent teeth within the same quadrant. 9,10 It is a rare condition with a prevalence of 0.09% to 1.4%, and a maxillary canine is the most commonly involved tooth.…”

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Unilaterally impacted maxillary central incisor and canine with ipsilateral transposed canine-lateral incisor

Wang

et al. 2013

The Angle Orthodontist

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Concurrent impaction and transposition of maxillary anterior teeth is uncommon and poses a challenge for dentists. Early diagnosis and management of eruption disturbances benefits esthetic and functional outcomes. This article describes the treatment of a teenager who had impactions of the left maxillary central incisor and canine as well as ipsilateral canine-lateral incisor transposition. Treatment alternatives and effective orthodontic techniques are delineated. To optimize the treatment results, the impacted maxillary canine was surgically exposed and orthodontically distalized with an innovative cantilever. Subsequently, the deeply impacted maxillary central incisor was uncovered and orthodontically mesialized into the arch. Finally, the displaced maxillary lateral incisor was brought into its normal position. The combined surgical-orthodontic approach resolved a difficult clinical issue and avoided additional restorations. An esthetic, functional outcome was achieved and satisfied the patient. (Angle Orthod. 2013;83:920-926.)

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“…Depuis, plusieurs équipes (Decker en 2008 [6], FrazierBowers en 2010 [5], Risom en 2013 [10] et Roth en 2014 [22]) ont identifié différents types de mutations impliquées dans les DPE.…”

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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.…”

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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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Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning

Cited by 94 publications

References 18 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

Unilaterally impacted maxillary central incisor and canine with ipsilateral transposed canine-lateral incisor

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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