Table 2.
Proteins encoded by the genes involved in the 5 variants of uncertain significance and clinical information for the affected patients.
| Gene | Protein | Protein function | Patient's Age | LS BMD Z-score | No. of compression fractures | No. of long bone fractures |
|---|---|---|---|---|---|---|
| ATM | ATM Serine/Threonine Kinase | Cell cycle checkpoint kinase. Disease: Ataxia-telangiectasia | 10 | 0 | 0 | 2 |
| SCN4A | Sodium Voltage-Gated Channel Alpha Subunit 4 | Generation and propagation of action potentials in neurons and muscle. Disease: Myotonia congenita | 15 | −1.8 | 0 | 3 |
| ETV1, DGKB | ETS Variant 1 | Cell growth, angiogenesis, migration, proliferation and differentiation. Diseases: Ewing sarcoma (ETV1-EWS translocations). Prostate cancer (ETV1-TMPRSS2 translocations) | 13 | −1.7 | 1 | 1 |
| Diacylglycerol Kinase Beta | Unknown | |||||
| AGBL2 | ATP/GTP Binding Protein Like 2 | Mediation of deglutamylation of target proteins | 7 | −0.8 | 1 | 3 |
| RPS6KL1, PGF | Ribosomal Protein S6 Kinase Like 1 | Unknown | 12 | +0.5 | 0 | 4 |
| Placental Growth Factor | Angiogenesis and endothelial cell growth. VEGF signaling pathway |