Table 1.
Clinical Symptoms of PLOD3 Mutations
| Clinical Symptom | Other Collagen Disorder with Common Feature | Mutated Gene |
|---|---|---|
| Flat facial profile | Stickler syndrome | COL2A1, COL11A1, and COL11A2 |
| Deafness | Stickler syndrome | COL2A1, COL11A1, and COL11A2 |
| Myopia | Stickler syndrome | COL2A1, COL11A1, and COL11A2 |
| Prominent knee joint | Stickler syndrome | COL2A1, COL11A1, and COL11A2 |
| Arterial rupture | EDSIV | COL3A1 |
| Arterial rupture | EDSVI | PLOD1 |
| Osteopenia | EDSVI | PLOD1 |
| Osteopenia | Bruck syndrome | PLOD2 |
| Joint contractures and fractures | Bruck syndrome | PLOD2 |
| Skin blistering | Epidermolysis bullosa | COL7A1 and COL17A1 |
| Cataract | Stickler syndrome | COL2A1, COL11A1, and COL11A2 |
| Nail abnormalities | Epidermolysis bullosa | COL7A1 |