Identification of a novel PTH1R variant in a family with primary failure of eruption

Abstract

Background This work aimed to report a small family of Primary Failure of Eruption(PFE) with a novel PTH1R variant. One of the patients has a rare clinical phenotype of the anterior tooth involved only.Case presentation The proband was a 13-year-old young man with an incomplete eruption of the right upper anterior tooth(11,12,13), resulting in a significant open-bite. His left first molar 26 partially erupted. Family history revealed that the proband's 12-year-old brother and father also had teeth eruption disorders. Genetic testing found a novel PTH1R variant (c.1325-1336del), which has never been reported before. The diagnosis of PFE was based on clinical and radiographic characteristics and the result of genetic testing. Bioinformatic analysis predicted this variant would result in the truncation of the G protein-coupled receptor encoded by the PTH1R, affecting its structure and function.Conclusion A novel PTH1R variant identified through whole-exome sequencing further expands the mutation spectrum of PFE. Patients in this family have different phenotypes, which reflects the characteristics of variable phenotypic expression of PFE.