Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 09-01-2009

Symbol	PFTE
Location	3p21.3
Name	primary failure of tooth eruption
Corresponding gene	PTH1R
Other symbol(s)	PFE
Main clinical features	familial, nonsyndromic primary failure of tooth eruption nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption; teeth in the posterior quadrants of the upper and lower jaw are preferentially affected, and this usually results in a progressive open bite extending from anterior to posterior
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
nonsense		truncated protein	should lead to a functionless receptor, strongly suggesting that haplo-insufficiency is the underlying cause of nonsyndromic PFTE

Remark(s)

. nonsyndromic PFTE might be attributable to a threshold-dependent disturbance in crosstalk between mesenchymal and epithelial cells in the immediate vicinity of the eruption pathway, and this disturbance might impair the delicate balance of bone resorption and formation