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Title Lateral Posterior Open Bite Due To Primary Failure Of Eruption (PFE) Is Caused By PTH1-R Gene Mutations And Leads To Futile Orthodontic Treatment
Clinical Question In patients with posterior lateral open bite due to primary eruption failure, how does the presence of a PTHR-1 genetic mutation compare to those without the mutation in regards to affecting the ability to align the teeth orthodontically?
Clinical Bottom Line Spare any attempts to align teeth in posterior lateral open bite that are due to PTH1-R gene mutation, because orthodontic treatment has had no known clinical success on patients with the genetic mutation and could actually worsen clinical outcome by promoting ankylosis. (See Comments on the CAT below)
Best Evidence (you may view more info by clicking on the PubMed ID link)
PubMed ID Author / Year Patient Group Study type
(level of evidence)
#1) 20152661Frazier-Bowers/2010Family (n=12) that segregated an autosomal dominant form of PFE with 5 affected and 7 unaffected personsCase Control
Key resultsPFE segregated with a novel mutation in the PTH1-R 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. The authors commented on how patients who have lateral open posterior cross-bite have been subjected to unsuccessful orthodontic treatment when genes rather than other etiologic factors (e.g., crowding) are responsible for failed eruption.
#2) 20135246Stellzig-Eisenhauer/2009Four families (n=22) in whom at least two members were affected by PFECase Control
Key resultsThe authors were able to reconstruct pedigrees over two and/or three generations in the families that indicated an autosomal-dominante mode of inheritance of non-syndromic PFE. Fifteen patients were diagnosed with PFE. Gender distribution was nearly equal (7 female, 8 male). Molecular genetic analysis of the PTHR1 gene revealed three distinct heterozygous mutations (c.1050-3C>G; c.543+1G>A; c.463G>T). Unaffected persons exhibited no mutations. The authors commented on how patients who have lateral open posterior cross-bite have undergone failed orthodontic treatment when genes rather than other etiologic factors (e.g., crowding) are responsible for failed eruption.
Evidence Search Limits: Humans, English, published in the last 2 years. Search primary failure of eruption Search (“Tooth Eruption” [Mesh] OR “Tooth Eruption/genetics” [Mesh]) 18:39:39 4486
Comments on
The Evidence
Molecular genetic analysis was used to isolate the genetic causes of PFE, which is of high level importance. Prior to the study, the molecular basis for PFE was unknown or speculative.
Applicability High level of applicability/external validity. Warns dental clinicians against orthodontic treatment of PFE teeth, because attempts will be futile. Now that we know the molecular basis for PFE, this may lead to new alternative treatments which prove to be more successful in the long term.
Specialty/Discipline (General Dentistry) (Orthodontics)
Keywords primary failure of eruptions; genetics; PTHR-1 gene; PFE
ID# 748
Date of submission: 02/24/2011spacer
E-mail rachelz_email@yahoo.com
Author Rachel Weber
Co-author(s) e-mail
Faculty mentor/Co-author Peter T. Gakunga, BDS, MS, PhD
Faculty mentor/Co-author e-mail GAKUNGA@uthscsa.edu
Basic Science Rationale
(Mechanisms that may account for and/or explain the clinical question, i.e. is the answer to the clinical question consistent with basic biological, physical and/or behavioral science principles, laws and research?)
post a rationale
None available
Comments and Evidence-Based Updates on the CAT
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by Mark Williamson, Kelly Cooper, Marii Malagayo (San Antonio, TX) on 01/06/2014
A PubMed search was performed on January 6th, 2014 and a more recent publication was found: Roth 2013, PubMed: 23771181 . This case study supports the conclusions of this CAT and does not significantly influence the clinical bottom line with respect to the orthodontic treatment of patients with posterior lateral open bite associated with PFE. However the new evidence indicates that several previously unknown mutations can also result in PFE, underscoring the prevalence of this condition and the importance of molecular diagnostics in orthodontic treatment planning.

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