WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

The study identified five new WNT10A mutations in 12 patients from 11 unrelated families, establishing that WNT10A mutations caused a broad spectrum of ectodermal dysplasias (EDs), including odonto-onycho-dermal dysplasia (OODD) and Schöpf-Schulz-Passarge syndrome (SSPS). WNT10A mutations were found in about 9% of an unselected patient cohort, with 53.8% of heterozygotes showing phenotypic manifestations, mainly tooth and nail anomalies. The study also revealed a sex-biased manifestation pattern, with males exhibiting a higher proportion of tooth anomalies than females, suggesting gender-specific differences in WNT10A expression.