Table 4.
Clinical characteristics of patients with combined mutations.
| Family /Patient |
Mutation 1 | Mutation 2 | Inheritance Type | Age | OI Type | Sex | Blue Sclera | Fractures | Disorders | |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Patient 17 | c.2869C>T, p. Gln957* in COL1A1 gene |
c.1197+5G>A in COL1A2 gene | AD * | 17 | 1 | F | + | 14 | Knee joint deformities, saber-shaped deformity of the hips |
| 2 | Patient 4 | c.579delT, p. Gly194fs in COL1A1 gene |
c.1197+5G>A in COL1A2 gene | de novo | 19 | 1 | M | + | 33 | Hypermobility of joints, deformity of the elbow joint |
| 3 | Patient 33 | c.2971G>C, p. Gly991Arg in COL1A2 gene | c.212G>C, p.Ser71Thr in FGF23 gene | AD | 58 | 4 | M | − | 5 | Short stature |
| 4 | Patient 40 | c.-14C>T in IFITM5 gene | c.1903C>T, p. Arg635* in LAMB3 gene | de novo | 27 | 5 | F | − | 15 | Kyphoscoliotic deformity of the spine and chest, platyspondylia, hypermobility of joints, arched curvature of the bones of both legs |
* AD-autosomal-dominant