Table 3.
Genes linked to early-onset osteoporosis
| Gene | OMIM | Inheritance | Mutation | Protein | Function |
|---|---|---|---|---|---|
| LRP5 |
259770 166710 |
AR, AD | LoF | Low-density lipoprotein-related receptor 5 | WNT signalling |
| WNT1 | 615220 | AR, AD | LoF | Wingless-type MMTV integration site family, member 1 | WNT signalling |
| PLS3 | 300910 | XL | LoF | Plastin 3 | Formation of F-actin bundles |
| SGMS2 | 126650 | AD | LoF | Sphingomyelin synthase 2 | Mineralisation |
| ARHGAP25 | 610587 | AD | LoF | Rho GTPase-activating protein 25 | Bone cell function and bone metabolism |
AR autosomal recessive, AD autosomal dominant, XL X-linked, LoF loss of function