Failure of Tooth Eruption, Primary

Alternative Names

  • Primary Failure of Eruption, Nonsyndromic
  • Primary Retention of Teeth
  • Unerupted Second Primary Molar
  • Posterior Openbite Malocclusion, Familial
  • Dental Noneruption
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WHO-ICD-10 version:2010

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

OMIM Number

125350

Mode of Inheritance

Autosomal dominant

Gene Map Locus

3p21.31

Description

Primary failure of tooth eruption (PFE) is an autosomal dominant disorder caused by a heterozygous mutation in the PTHR1 gene.  Affected patients have Primary failure of tooth eruption, with the first and second molar teeth most commonly affected.  This leads to a progressive posterior open bite.  Ankylosis of deciduous teeth is also noticed, which makes it impossible to use orthodontic force to move the teeth into the correct positions. 

Diagnosis is reached by clinical examination, X-ray and genetic testing.  Since regular orthodontic treatment causes ankylosis in these patients, prosthetic rehabilitation is the only reasonable option that can be used to manage the condition.  In children, removable prosthesis works well.

PFE is transmitted as an autosomal dominant trait with high penetrance and variable expression. Mutations in the parathyroid hormone receptor-1 (PTHR1) gene have been shown to be causal for the condition. This gene codes for a small G-protein coupled receptor that plays a key role in regulation of calcium metabolism as well as skeletal development. The variability in expression of mutations in this gene is exemplified by patients from the same family carrying the same mutation exhibiting varying degrees of phenotypic severity. Recent studies indicate that mutations in PTHR1 may lead to a functionless receptor, thus suggesting that haploinsufficiency of PTHR1 is likely to be the underlying principle of PFE.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Jelani et al. (2016) studied a 5-generation consanguineous Saudi Arabian family with PFE.  The family originated from the southwestern region of the country and had four affected girls with tooth eruption failure.  The diagnosis was in line with defined diagnostic criteria for PFE.  Family history was negative for similar presentation in previous generations.  Two other siblings and both parents were also normal.  Blood samples were obtained from all family members except the father who died before the start of this study.  The study identified a homozygous pathogenic (c.611T>A:p.Val204Glu) mutation in the PTH1R gene, which is broadening the spectrum of PTH1R pathogenicity.

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