Overall, 81 pathogenic or likely causative variants were associated with WS in our sample of 90 WS patients, including the probands and their available family members, and consisting of 27 variants located in MITF (33.3%, 27/81), 25 in PAX3 (30.9%, 25/81), 15 in SOX10 (18.5%, 15/81), 9 in EDNRB (11.1%, 9/81), 3 in EDN3 (3.7%, 3/81), and 2 in SNAI2 (2.5%, 2/81). The gene discussed is PAX3; the disease is Werner syndrome.