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Table 1 Mutations of RANKL/RANK/OPG genes in hereditary bone diseases

From: RANKL biology: bone metabolism, the immune system, and beyond

MoleculeGene symbolLocationSite of mutationDiseaseLiterature
RANKLTNFSF1113q14IVS7+4_8del Osteopetrosis, autosomal recessive 223
c.596T>Ap.Met199LysOsteopetrosis, autosomal recessive 223
c.828_829delCGp.Val277fsOsteopetrosis, autosomal recessive 223
RANKTNFRSF11A18q21.33c.40_66dupp.Ala13_Leu21dupPaget disease of bone 2, early–onset25, 26
c.48_65dupp.Leu16_Leu21dupFamilial expansile osteolysis28, 29, 30
c.49_63dupp.Leu16_Leu20dupExpansile skeletal hyperphosphatasia31
c.49_66dupp.Leu16_Leu21dupFamilial expansile osteolysis26
c.52_66dupp.Leu16_Leu21dupPaget disease of bone 2, early–onset27
c.55_66dupp.Cys18_Leu21dupPanostotic expansile bone disease32
c.157G>Cp.Gly53ArgOsteopetrosis, autosomal recessive 724
c.385C>Tp.Arg129CysOsteopetrosis, autosomal recessive 724
c.508A>Gp.Arg170GlyOsteopetrosis, autosomal recessive 724
c.523T>Cp.Cys175ArgOsteopetrosis, autosomal recessive 724
c.730G>Tp.Ala244SerOsteopetrosis, autosomal recessive 724
OPGTNFRSF11B8q24.12100 kb deletion Paget disease of bone 5, juvenile–onset33
245 kb deletion Paget disease of bone 5, juvenile–onset37
c.193T>Cp.Cys65ArgPaget disease of bone 5, juvenile–onset35
c.226A>Cp.Thr76ProPaget disease of bone 5, juvenile–onset37
c.260G>Ap.Cys87TyrPaget disease of bone 5, juvenile–onset35
c.349T>Cp.Phe117LeuPaget disease of bone 5, juvenile–onset35
c.592_IVS3+19_20del Paget disease of bone 5, juvenile–onset35
c.544_546delGACp.Asp182delPaget disease of bone 5, juvenile–onset34, 35
c.966_969delTGAC insCTTp.Asp323Ser fsX3Paget disease of bone 5, juvenile–onset36
  1. IVS intervening sequence, c. coding DNA, p. protein, del deletion, dup duplication, ins insertion, fs frame shift