Phenotypic Variability Associated with WNT10A Nonsense Mutations

The study investigated the phenotypic variability associated with WNT10A nonsense mutations in three unrelated patients with odonto-onycho-dermal dysplasia (OODD) from the Netherlands and Australia. All patients exhibited core symptoms such as hypodontia, hypotrichosis, nail abnormalities, and palmoplantar keratoderma, but also had unique additional symptoms. Genetic analysis revealed compound heterozygous and homozygous nonsense mutations in the WNT10A gene. Immunohistochemical staining showed reduced expression of truncated WNT10A, suggesting that the phenotype resulted from the absence of the full-length protein. The study highlighted the phenotypic heterogeneity associated with WNT10A mutations and provided new insights into the condition's clinical manifestations.