KCTD1 and Branchio-oculo-facial syndrome: Mutations in AP-2α cause cutis aplasia in patients with Branchio-Oculo-Facial syndrome (BOFS) [37], whereas KCTD1 mutations are identified in Scalp-Ear-Nipple (SEN) syndrome, suggesting a potential overlap in the pathogenesis of BOFS and SEN syndrome during ectodermal development due to their interaction between AP-2α and KCTD1 [38].