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October 1, 2025Open Access

Identification of a Novel PTH1R Mutation in Primary Failure of Eruption: A Case Report and Therapeutic Perspectives

Key Points

A novel heterozygous mutation in PTH1R was identified, contributing to primary failure of eruption.
Diagnosis of primary failure of eruption is critical and involves clinical assessment and genetic testing.
Differential diagnoses must include conditions like mechanical failure of eruption, which are distinct from PFE.
Testing for pathogenic variants in the PTH1R gene can enhance understanding and management of non-syndromic PFE.

Abstract

Primary failure of eruption (PFE) is an uncommon genetic disorder where non-ankylosed teeth do not emerge in the mouth despite the presence of an unobstructed eruption pathway. It is essential to consider differential diagnoses like mechanical failure of eruption (MFE) or ankylosis. Unlike MFE, PFE is a non-syndromic condition linked to a mutation in the parathyroid hormone receptor ( PTH1R ) gene. Diagnosis typically relies on a combination of clinical and radiographic evaluation, supplemented by genetic testing. In the present study, a heterozygous substitution in PTH1R (OMIM: 125350) c.436C> T (p. Arg146Ter), was identified as a likely pathogenic variant. This report highlights a novel mutation in PTH1R associated with non-syndromic PFE.

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