Table 4.
Mutations in the adRP Cohort
| A. Summary | ||
|---|---|---|
| Gene | Probands (n) | % of Total |
| CA4 | 0 | 0.0 |
| CRX | 2 | 1.0 |
| FSCN2 | 0 | 0.0 |
| IMPDH1 | 5 | 2.5 |
| NRL | 0 | 0.0 |
| PRPF3 (RP18) | 2 | 1.0 |
| PRPF8 (RP13) | 6 | 3.0 |
| PRPF31 (RP11) | 11 | 5.5 |
| RDS | 18 | 9.0 |
| RDS-ROM1 digenic | 1 | 0.5 |
| RHO | 53 | 26.5 |
| ROM1 | 0 | 0.0 |
| RP1 | 7 | 3.5 |
| RP9 | 0 | 0.0 |
| RPGR | 2 | 1.0 |
| Total | 107 | 53.5 |
| B. Frequent Mutations | ||
|---|---|---|
| Gene | Mutation | % of Total |
| IMPDH1 | Asp226Asn | 2.5 |
| PRPF3 (RP18) | Thr494Met | 1.0* |
| PRPF8 (RP13) | Glu2331fs/ter 2358 | 1.0 |
| RDS | IVS2+3 A→T Pro216Leu Gly266Asp |
2.0 1.0 1.0 |
| RHO | Pro23His Gly106Trp Arg135Leu Arg135Trp Asp190Asn Pro347Leu |
10.0 1.0 1.5 2.0 1.0 1.0 |
| RP1 | Arg677ter Leu762fs/ter 777 |
1.5 1.5 |
| Total | 28.0 | |
| C. Frequent Exons or Regions | ||
|---|---|---|
| Gene | Region | % of Total |
| IMPDH1 (RP10) | Exon 7 | 2.5 |
| PRPF8 (RP13) | Exon 42 | 1.0 |
| RDS | Exon 2 | 7.0 |
| RHO | Exon 1 Exon 2 Exon 5 |
14.5 5.5 4.0 |
| RP1 | Nt 1948-2338 | 3.5 |
| Total | 38.0 | |
*
One per 200 in this study but 1% in Chakarova et al.15