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GENATLAS PHENOTYPE

last update : 01-02-2010

Symbol	OLD
Location	14q13.3
Name	oligodontia
Other name(s)	He-Zhao deficiency
Corresponding gene	PAX9
Other symbol(s)	STHAG3
Main clinical features	characterized by the agenesis of six or more permanent teeth without associated systemic disorders
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	paired box gene 9

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
frameshift		haploinsufficiency	(219InsG) within the paired domain of PAX9 produces a protein product associated with a severe form of molar agenesis
missense		haploinsufficiency

Remark(s)

severity of tooth agenesis in the patients was correlated to the DNA-binding capacity of the mutated PAX9 9proteins (hypothesis that DNA binding is responsible for the genetic defect) (Wang 2009)