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

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Case report identifies a novel mutation in PTH1R linked to primary failure of eruption, suggesting further genetic evaluation.

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.

Darjee et al. (2025) studied this question.

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View Full Paper

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Authors

Case report identifies a novel mutation in PTH1R linked to primary failure of eruption, suggesting further genetic evaluation.

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.

Darjee et al. (2025) studied this question.

View Full Paper

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Bookmark