Table 7.
Clinical features of the 13 affected individuals with 15 rare variants.
| Sample | Gene (Protein change) | Age (years) | Sex | Course of disease (years) | Affected skeleton site(s) | Symptoms and signs | ALP (U/L) a |
|---|---|---|---|---|---|---|---|
| A4 | HNRNPA2B1 (p.Pro330Leu) | 32 | M | 0 | skull/spine/pelvis/ribs/bilateral tibia/femur/fibula | bone pain | 2349 |
| A26 | NUP205 (p.Arg615Pro) | 80 | F | 20 | skull/spine | bone pain/hearing loss | 333 |
| A27 | CAPN2 (p.Arg94Cys) | 82 | M | 20 | pelvis | null | 293 |
| A12 | CAPN2 (p.Thr160Ile), RYR3 (p.Arg1893Trp) | 83 | F | 1 | skull | bone pain | 321 |
| A11 | WNT16 (p.Cys92Phe) | 42 | F | 6 | skull | bone deformity/swollen | 2031 |
| A28 | NUP214 (p.A194Val) | 29 | M | 6 | right femur/pelvis | bone pain/bone deformity | 445 |
| A30 | NUP214 (p.Arg741Leu) | 55 | M | 26 | left femur/bilateral tibia/bilateral fibula | bone pain/bone deformity/weakness | 1120 |
| A8 | NUP214 (p.Gly1727Arg), RYR3 (p.Thr2538Met) | 67 | M | 17 | pelvis/right fibula | bone pain | 135 |
| A29 | RYR3 (p.Arg4862His) | 36 | M | 8 | bilateral femur/left tibia | bone pain/skin temperature increase/swollen/bone deformity | 360 |
| A14 | RYR1 (p.Lys2597Glu) | 64 | F | 2 | pelvis | bone pain | 132 |
| A13 | RYR1 (p.Arg3187Trp) | 65 | F | 0 | right femur | bone pain | 245 |
| A24 | CAPN2 (p.X674_splice) | 34 | F | 6 | skull | bone pain | 192 |
| A9 | WNT16 (p.S38Pfs*15) | 29 | F | 1 | bilateral tibia/skull/spine/pelvis/bilateral femur/radius/ulna/ribs | bone pain/swollen | 785 |
a
Reference range: 15-112 U/L.
Null: asymptomatic.
ALP, alkaline phosphatase, M, male, F, female.