Table 2.
Prevalence of disease-causing mutations in adRP families (N = 270), with number of mutation types
| Gene | Families | Percent | Missense | Nonsense | Other |
|---|---|---|---|---|---|
| CRX | 2 | 0.7 | 1 | 0 | 1 |
| HK1 | 3 | 1.1 | 1 | 0 | 0 |
| IMPDH1 | 10 | 3.7 | 2 | 0 | 0 |
| KLHL7 | 3 | 1.1 | 3 | 0 | 0 |
| NR2E3 | 6 | 2.2 | 1 | 0 | 1 |
| NRL | 2 | 0.7 | 2 | 0 | 0 |
| PRPF3 | 4 | 1.5 | 2 | 0 | 0 |
| PRPF31 | 24 | 8.9 | 4 | 3 | 17 |
| PRPF8 | 7 | 2.6 | 4 | 0 | 1 |
| RDH12 | 1 | 0.4 | 0 | 0 | 1 |
| PRPH2 | 19 | 7.0 | 10 | 1 | 2 |
| PRPH2+ROM1 | 1 | 0.4 | 1 | 0 | 1 |
| RHO | 83 | 30.7 | 30 | 2 | 1 |
| RP1 | 13 | 4.8 | 0 | 3 | 1 |
| RP2 | 3 | 1.1 | 1 | 0 | 2 |
| RPE65 | 1 | 0.4 | 1 | 0 | 0 |
| RPGR | 22 | 8.1 | 4 | 2 | 13 |
| SNRNP200 | 4 | 1.5 | 4 | 0 | 0 |
| TOPORS | 4 | 1.5 | 3 | 0 | 1 |
| None | 58 | 21.5 | |||
| Total | 270 | 100 |