Previous studies demonstrated that 11 genes mutation, including TCIRG1, CLCN7, LRP5, IGSF23, OSTM1, CAII, PLEKHM1, TNFSF11, TNFRSF11A, CTSK, IKBKG and ITGB3 are reported to associate with osteopetrosis. The gene discussed is TNFSF11; the disease is osteopetrosis.