ArticleBMC oral health2023
Identification of a novel PTH1R variant in a family with primary failure of eruption.
Article in BMC oral health, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 4 citations in OpenAlex.
- Loss of PTH 1 receptor signaling in periodontal cells drives cementum dysfunction and molar ankylosis in mice.Bone research · 2026Article
- Genetic Determinants of Primary Failure of Eruption: A Comprehensive Review of PTH1R Variants.Genes · 2026Review
- A digitally designed and 3D-printed customized device for the three-dimensional traction of complex maxillary impacted canines: case reports.BMC oral health · 2025Article
- Mechanisms of primary failure of eruption: a new model of multidimensional framework.Progress in orthodontics · 2025Review
- Primary Failure of Eruption: A Rare but Desperate Condition for Orthodontic Treatment.Turkish journal of orthodontics · 2025Article
- Primary Failure Eruption: Genetic Investigation, Diagnosis and Treatment: A Systematic Review.Children (Basel, Switzerland) · 2023Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary failure of tooth eruption (PFE) is a rare autosome genetic disorder that causes open bite. This work aimed to report a small family of PFE(OMIM: # 125,350) 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 teeth, resulting in a significant open-bite. His left first molar 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 (NM_000316.3 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.
conclusionA 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.