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. Here, TNFRSF11A is linked to osteopetrosis.