[WNT 10A-mutations as explanation for tooth agenesis]

In the literature many different mutations of the WNT10A-gene have been described in relation to the prevalence of tooth agenesis. Such mutations can result in strongly divergent phenotypes. Clinically a single phenotype can lead to either simple hypodontia or to comprehensive syndromatic disorders. Both the Schöpf-Schulz-Passarge syndrome (SPSS) and odonto-onycho-dermal dysplasia (OODD) as well as isolated tooth agenesis have been associated with mutations of this gene. If the WNT10A-gene were to be included in DNA-tests, it has been predicted that 70% of the cases of isolated hypodontia could be explained by a WNT10A-gene mutation. An analysis of all reported cases in the research literature shows that patients with a mutation in both alleles always show a phenotype. More than half of them also have, in addition to hypodontia, clinical disorders in other ectodermal tissue. When only one allele is affected, there is a 41.3% chance that he or she will be asymptomatic.