A novel PTH1R mutation causes primary failure of eruption via the cAMP-PI3K/AKT pathway.

ABSTRACT:

Background

Primary failure of eruption (PFE) is a rare disorder characterized by a posterior open bite. While mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been demonstrated to cause PFE, the underlying mechanisms remain largely unknown.

Methods

Whole exome sequencing was conducted to identify PTH1R variants in a PFE family. MG63 cells that stably expressed the corresponding mutant PTH1R were established using lentiviruses. Next, osteogenesis was assessed by measuring cell alkaline phosphatase activity, conducting alizarin red staining, and evaluating osteoblast-specific gene expression. Then, computational analysis of binding affinity and RNA sequencing were carried out. Lastly, rescue experiments were performed to validate the mechanism underlying the p

SUBMITTER: Lu K 

PROVIDER: S-EPMC11847765 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature