IADR Abstract Archives

Genotype-Phenotype Correlation in Patients With Primary Failure of Eruption

Objectives: Primary failure of eruption (PFE) is characterized by non-syndromic eruption failure of permanent molars, which fail in their eruptive process partially or completely. This condition is different from mechanical eruption failure (MFE) due to a mechanical obstacle, and ankylosis. Recent studies have shown that PFE is due to heterozygous variants in the PTH1R gene, encoding the PTH receptor. The objective of this study was to identify clinic and radiographic signs of PFE using the diagnostic rubric of Rhoads et al.(2013) and comparing the phenotypic characteristics between patients with and without PTH1R variants.
Methods: Forty-four patients with eruption disorders were collected at the Dental Clinic of Università Cattolica del Sacro Cuore in Rome. Clinical examination and panoramic X-rays were employed to assess the dental phenotype and the localization of eruption problems. Clinical signs were evaluated according to the diagnostic rubric and patients’ DNA was sequenced to identify PTH1R variants. Potential pathogenicity of variants was evaluated using multiple genetic databases providing information on variant frequency and predicting functional effects on the PTH receptor.
Results: Mutational analysis of the PTH1R coding sequence revealed 14 different variants in 30 patients and 8 first-degree relatives (9 exonic and 5 intronic). Patients with variants classified as pathogenic (class 5), likely pathogenic (class 4) and some variants of uncertain significance (class 3) had the typical phenotype reported in the literature. Patients without PTH1R variants or with (likely) benign variants (class 1-2) had an atypical phenotype often involving only one tooth or a single arch.
Conclusions: Our results suggest that clinical and radiographic exams are sufficient to suggest the presence of PTH1R variants but genetic analysis is important to confirm the diagnosis and predict the prognosis.

2021 Continental European and Scandinavian Divisions Meeting (Brussels, Belgium, Hybrid)
Brussels, Belgium, Hybrid
2021
0288
Orthodontics Research
  • Grippaudo, Cristina  ( Università Cattolica del Sacro Cuore , Rome , Italy ;  Fondazione Policlinico Gemelli IRCCS , Rome , Italy )
  • Cafiero, Concetta  ( Università Cattolica del Sacro Cuore , Rome , Italy )
  • Re, Agnese  ( Università Cattolica del Sacro Cuore , Rome , Italy )
  • D'apolito, Isabella  ( Università Cattolica del Sacro Cuore , Rome , Italy )
  • Chiurazzi, Pietro  ( Università Cattolica del Sacro Cuore , Rome , Italy ;  Fondazione Policlinico Gemelli IRCCS , Rome , Italy )
  • NONE
    Poster Session ALL VIRTUAL
    Orthodontics