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

Received August 2009; received in revised form October 2009; accepted October 2009.

Refers to article:

Editor's Summary and Q&A: Primary failure of eruption and PTH1R: The importance of a genetic diagnosis for orthodontic treatment planning
Sylvia A. Frazier-Bowers, Darrin Simmons, J. Timothy Wright, William R. Proffit, James L. Ackerman
American Journal of Orthodontics & Dentofacial Orthopedics
February 2010 (Vol. 137, Issue 2, Pages 160-161)
Abstract | Full Text | Full-Text PDF (52 KB)

Introduction

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.

Methods

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.

Results

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.

Conclusions

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.

a Assistant professor, Department of Orthodontics, School of Dentistry, University of North Carolina, Chapel Hill, NC

b Research analyst, Department of Pediatric Dentistry, School of Dentistry, University of North Carolina, Chapel Hill, NC

c Professor, Department of Pediatric Dentistry, School of Dentistry, University of North Carolina, Chapel Hill, NC

d Professor, Department of Orthodontics, School of Dentistry, University of North Carolina, Chapel Hill, NC

e Private practice, Pittsboro, NC

Reprint requests to: Sylvia A. Frazier-Bowers, Department of Orthodontics, University of North Carolina, Chapel Hill, NC 27599.

Supported by the University of North Carolina at Chapel Hill Faculty Development Funds, grants 1K23RR17442 and M01RR-00046.

The authors report no commercial, proprietary, or financial interest in the products or companies described in this article.

PII: S0889-5406(09)01157-3

doi:10.1016/j.ajodo.2009.10.019

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