Primary failure of eruption: Clinical and genetic findings in the mixed dentition.

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 = 22). Sequencing followed by mutational analysis of the coding regions of PTH1R gene was completed for all individuals (N = 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 = 3). In silico ana

SUBMITTER: Grippaudo C 

PROVIDER: S-EPMC8288321 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature