Table 2.
Clinical characteristics of the 37 individuals analyzed with targeted gene sequencing
| ID | Sex | Age at diagnosis, y | BMD Z/T score | Age at first fracture, y | Vertebral fracturesa | Nonvertebral fractures | |||
|---|---|---|---|---|---|---|---|---|---|
| Z/T | LS | FN | TH | ||||||
| 1 | M | 57 | T | –3.6 | –1.2 | –0.9 | NA | 0 | 0 |
| 2 | M | 77 | T | –5.5 | –4.1 | –3.8 | 19 | 3 (M) | 1 (ankle) |
| 3 | M | 39 | Z | –4.8 | –2.9 | NA | 6 | 0 | 3 (humerus, fibula, scapula) |
| 4 | F | 33 | T | –4.8 | –2.8 | NA | 33 | 5 (C) | 5 (humerus, toe, ribs) |
| 5 | M | 35 | T | –3.5 | –2.2 | –2.3 | 8 | 9 (C) | > 10 (long bones, hand) |
| 6 | M | 42 | Z | –2.7 | –2.1 | –2.0 | 7 | 1 (C) | 5 (radius, hand, ribs) |
| 7 | F | 35 | Z | –3.8 | –1.4 | –1.6 | 15 | 0 | 4 (tibia, hand, foot, shoulder) |
| 8 | F | 25 | Z | –5.7 | –4.3 | –4.6 | 7 | 9 (C) | 8 (femur, tibiae, elbows, forearm, clavicle, foot) |
| 9 | F | 33 | Z | –2.3 | –2.2 | –1.9 | 33 | 0b | 2 (femur) |
| 10 | M | 58 | T | –4.9 | –3.4 | –3.5 | 58 | 5 (C) | 0 |
| 11 | M | 22 | Z | –2.1 | –0.8 | –0.1 | 22 | 0 | 4 (femurs, tibiae) |
| 12 | M | 44 | Z | –4.6 | –3.5 | –3.5 | 55 | 0 | 2 (mandible, hand) |
| 13 | F | 38 | Z | –3.5 | –1.4 | –1.6 | 33 | 5 (C) | 1 (knee) |
| 14 | M | 64 | T | –6.1 | –3.8 | –4.1 | 68 | 11 (M) | 5 (femurs, scapula) |
| 15 | F | 21 | Z | –4.4 | –4.4 | –4.9 | 1 | 4 (M) | 1 (femur) |
| 16 | F | 60 | T | –4.0 | NA | NA | 60 | 4 (C) | 5 (humerus, radius, tibia, clavicle, pelvis) |
| 17 | F | 22 | Z | –3.0 | –1.5 | –1.8 | 20 | 1 (M) | 5 (radius, ankle, feet, fingers, ribs) |
| 18 | M | 26 | Z | –2.3 | –2.6 | –2.0 | 7 | 0b | 3 (radius, tibia, foot) |
| 19 | F | 49 | T | –5.1 | –3.1 | –3.3 | 72 | 4 (M) | 1 (forearm) |
| 20 | M | 45 | Z | –3.0 | –1.1 | –1.5 | NA | 0 | 0 |
| 21 | M | 39 | Z | –2.8 | –0.5 | –2.3 | 39 | 12 (C) | 1 (pelvis) |
| F1A | M | 53 | T | –4.5 | –4.5 | –3.7 | 2 | 4 (M) | 6 (forearms, ribs) |
| F1B | F | 70 | T | –2.7 | –2.5 | –1.9 | 60 | 0 | 2 (knee, ankle) |
| F2A | M | 52 | T | –3.6 | –3.0 | NA | 52 | 9 (C) | 0 |
| F2B | F | 49 | T | –4.0 | –2.1 | –1.2 | NA | 0 | 0 |
| F3A | F | 33 | T | –3.7 | –2.4 | NA | 33 | 4 (C) | 0 |
| F3B | F | 56 | T | –2.4 | –1.5 | –1.4 | 56 | 1 (M) | 2 (fibula, ankle) |
| F4A | F | 65 | T | –4.2 | –3.7 | –4.3 | 30 | 1 (M) | 4 (femur, foot, ribs) |
| F4B | F | 81 | T | –1.8 | –2.4 | –2.7 | 81 | 0b | 3 (femur, radius, ulna) |
| F5A | F | 65 | T | –4.2 | –3.8 | NA | 84 | 3 (M) | 0 |
| F5B | F | 54 | T | –1.7 | –3.0 | –3.1 | 10 | 0b | 2 (forearm, clavicle) |
| F6A | M | 35 | Z | –3.5 | –1.9 | –2.0 | 19 | 1 (C) | 3 (forearm, humerus, ribs) |
| F6B | M | 32 | Z | –2.7 | –0.7 | –0.2 | 13 | 0 | 3 (tibia, wrist, finger) |
| F6C | M | 61 | T | –0.9 | –1.3 | –0.4 | 9 | 1 (M) | 4 (forearm, elbow, wrist, foot) |
| F7A | M | 51 | T | –3.1 | –2.9 | –2.8 | 56 | 3 (C) | 0 |
| F7B | M | 19 | Z | –2.1 | –0.5 | –0.9 | NA | 0 | 0 |
| F7C | M | 20 | Z | –3.1 | –1.8 | –1.6 | NA | 0 | 0 |
Abbreviations: BMD, bone mineral density; F, female; FN, femoral neck; ID, identification; LS, lumbar spine; M, male; NA, not available; TH, total hip.
a(C), clinical fractures; (M), morphometric fractures.
bNo clinical vertebral fractures, but lateral spine radiographs were not available.