Abstract
ABSTRACT
Objective: To test the hypothesis that mutations in the parathyroid hormone 1 receptor (PTH1R)
include effects in both primary and permanent teeth.
Materials and Methods: DNA was extracted from saliva samples of 29 patients (8 familial and 21
sporadic) who presented with clinical evidence of infraoccluded teeth, and their unaffected relatives
(N ¼ 22). Sequencing followed by mutational analysis of the coding regions of PTH1R gene was
completed for all individuals (N ¼ 29).
Results: Eight of 29 cases revealed a heterozygous pathogenic variant in the PTH1R gene; five of
eight variants represented distinct mutations based on comparison with the dbSNP, HGMD, and
ESP databases. One mutation (c.1765 T.C p.Trp89Arg) was found to segregate within a family (n
¼3). In silico analyses for all variants revealed a putative pathogenic effect. A genotype-phenotype
correlation was reported as defined by a functional mutation in PTH1R and corresponding effects
on one or more posterior teeth only; unilateral or bilateral involvement, infraoccluded primary teeth.
Conclusions: Novel mutations were reported in the PTH1R gene that included PFE-affected
primary molars, thus providing the basis for using a genetic diagnostic tool for early diagnosis
leading to proper management.
Lingua originale | English |
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pagine (da-a) | 275-282 |
Numero di pagine | 8 |
Rivista | Angle Orthodontist |
Volume | 88 |
DOI | |
Stato di pubblicazione | Pubblicato - 2018 |
Keywords
- PTH1R
- Primary failure of eruption (PFE)