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01.03.2014 | Original Article | Ausgabe 2/2014

Clinical Oral Investigations 2/2014

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption

Clinical Oral Investigations > Ausgabe 2/2014
Helmut Roth, Lars G. Fritsche, Christoph Meier, Peter Pilz, Martin Eigenthaler, Philipp Meyer-Marcotty, Angelika Stellzig-Eisenhauer, Peter Proff, Cláudia M. Kanno, Bernhard HF Weber
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1007/​s00784-013-1014-3) contains supplementary material, which is available to authorized users.



Primary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite as a consequence of incomplete eruption of posterior teeth. Heterozygous mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been shown to cause PFE likely due to protein haploinsufficiency. To further expand on the mutational spectrum of PFE-associated mutations, we report here on the sequencing results of the PTH1R gene in 70 index PFE cases.

Materials and methods

Sanger sequencing of the PTH1R coding exons and their immediate flanking intronic sequences was performed with DNA samples from 70 index PFE cases.


We identified a total of 30 unique variants, of which 12 were classified as pathogenic based on their deleterious consequences on PTH1R protein while 16 changes were characterized as unclassified variants with as yet unknown effects on disease pathology. The remaining two variants represent common polymorphisms.


Our data significantly increase the number of presently known unique PFE-causing PTH1R mutations and provide a series of variants with unclear pathogenicity which will require further in vitro assaying to determine their effects on protein structure and function.

Clinical relevance

Management of PTH1R-associated PFE is problematic, in particular when teeth are exposed to orthodontic force. Therefore, upon clinical suspicion of PFE, molecular DNA testing is indicated to support decision making for further treatment options.

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