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Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene ( PTH1R ). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with  PTH1R  mutations will not benefit from surgical and/or orthodontic treatment and it is therefore clinically important to establish whether a given failure of tooth eruption is caused by a  PTH1R  defect or not. We analyzed the  PTH1R  gene in six patients clinically diagnosed with PFE, all of which had undergone surgical and/or orthodontic interventions, and identified novel  PTH1R  mutations in all. Four of the six mutations were predicted to abolish correct mRNA maturation either through introduction of premature stop codons (c.947C&gt;A and c.1082G&gt;A), or by altering correct mRNA splicing (c.544-26_544-23del and c.989G&gt;T). The latter was validated by transfection of minigenes. The six novel mutations expand the mutation spectrum for PFE from eight to 14 pathogenic mutations. Loss-of-function mutations in  PTH1R  are also associated with recessively inherited Blomstrand chondrodysplasia. We compiled all published  PTH1R  mutations and identified a mutational overlap between Blomstrand chondrodysplasia and PFE. The results suggest that a genetic approach to preclinical diagnosis will have important implication for surgical and orthodontic treatment of patients with failure of tooth eruption.

Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption