Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis

In the 2013 study, researchers found a new mutation in the PAX9 gene, c.59delC, which was associated with the absence of multiple permanent teeth (hypodontia) and hair abnormalities in a family, but not with skin or nail problems. This mutation, which leads to a significantly shorter protein, was not present in 200 healthy controls, suggesting its specificity to the condition. The mutation was inherited in an autosomal-dominant manner and was not accompanied by mutations in other genes typically linked to similar conditions. The findings suggest that a deficiency in the PAX9 protein could be the cause of the dental and hair symptoms observed in the family.