Until recently, mutations in EDN3 (20q13.32), EDNRB (13q22.3), MITF (3p14p13), PAX3 (2q36.1), SNAI2 (8q11.21), and SOX10 (22q13.1) have been reported in isolated patients as well as in families segregating WS [6–8]. The gene discussed is PAX3; the disease is Werner syndrome.