Table 1 The Difference of Phenotypes in Patients with Different Mutation Types
Mutation types | Missense | Splicing | Truncation | P value |
|---|---|---|---|---|
Cases | 12 | 35 | 60 | |
Male/Female | 5/7 | 20/15 | 30/30 | 0.692 |
Age, years | 16.0 ± 13.8 (1.0–45.0) | 23.2 ± 15.2 (2.3–62.0) | 21.0 ± 17.1 (0.3–63.0) | 0.301 |
Cataract | 18.2% | 37.1% | 13.8% | 0.004* |
High myopia | 68.8% | 87.8% | 72.8% | 0.510 |
RD | 27.3% | 45.5% | 42.4% | 0.575 |
Arthropathy | 50.0% | 48.5% | 25.5% | 0.010* |
HL | 12.5% | 30.3% | 11.3% | 0.022* |
Midfacial dysplasia | 87.5% | 60.6% | 56.9% | 0.246 |
Cleft palate | 37.5% | 28.6% | 31.0% | 0.743 |