In addition, de novo PAX3 variants reported in Chinese WS patients include c.166C>A, c.433C>T, c.456_459dupTTCC, c.592delG, c.626_627delCT, c.667C>G, c.668G>T, c.795_800delCTGGTT, c.1459C > T; none were detected in either parent, and most were truncating or missense variants. The gene discussed is PAX3; the disease is Werner syndrome.