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

RANKL

TNFSF11

13q14

IVS7+4_8del

Osteopetrosis, autosomal recessive 2

23

c.596T>A

p.Met199Lys

Osteopetrosis, autosomal recessive 2

23

c.828_829delCG

p.Val277fs

Osteopetrosis, autosomal recessive 2

23

RANK

TNFRSF11A

18q21.33

c.40_66dup

p.Ala13_Leu21dup

Paget disease of bone 2, early–onset

25, 26

c.48_65dup

p.Leu16_Leu21dup

Familial expansile osteolysis

28, 29, 30

c.49_63dup

p.Leu16_Leu20dup

Expansile skeletal hyperphosphatasia

31

c.49_66dup

p.Leu16_Leu21dup

Familial expansile osteolysis

26

c.52_66dup

p.Leu16_Leu21dup

Paget disease of bone 2, early–onset

27

c.55_66dup

p.Cys18_Leu21dup

Panostotic expansile bone disease

32

c.157G>C

p.Gly53Arg

Osteopetrosis, autosomal recessive 7

24

c.385C>T

p.Arg129Cys

Osteopetrosis, autosomal recessive 7

24

c.508A>G

p.Arg170Gly

Osteopetrosis, autosomal recessive 7

24

c.523T>C

p.Cys175Arg

Osteopetrosis, autosomal recessive 7

24

c.730G>T

p.Ala244Ser

Osteopetrosis, autosomal recessive 7

24

OPG

TNFRSF11B

8q24.12

100 kb deletion

Paget disease of bone 5, juvenile–onset

33

245 kb deletion

Paget disease of bone 5, juvenile–onset

37

c.193T>C

p.Cys65Arg

Paget disease of bone 5, juvenile–onset

35

c.226A>C

p.Thr76Pro

Paget disease of bone 5, juvenile–onset

37

c.260G>A

p.Cys87Tyr

Paget disease of bone 5, juvenile–onset

35

c.349T>C

p.Phe117Leu

Paget disease of bone 5, juvenile–onset

35

c.592_IVS3+19_20del

Paget disease of bone 5, juvenile–onset

35

c.544_546delGAC

p.Asp182del

Paget disease of bone 5, juvenile–onset

34, 35

c.966_969delTGAC insCTT

p.Asp323Ser fsX3

Paget disease of bone 5, juvenile–onset

36