Table 1. Mutations detected in the adRP Spanish cohort (n=139).
| Gene | Mutation | Number of mutated families |
|---|---|---|
|
RHO | ||
| |
p.Gly106Arg |
1 |
| |
p.Arg135Leu |
1 |
| |
p.Ala164Glu |
1 |
| |
p.Pro171Leu |
1 |
| |
p.Tyr178Cys |
1 |
| |
p.Glu181Lys |
1* |
| |
p.Gly182Ser |
1 |
| |
p.Asp190Tyr |
1 |
| |
p.Pro347Leu |
4 |
|
RP1 | ||
| |
p.Arg677Stop |
1 |
| |
p.Lys705fsX711 |
1 |
| |
p.Cys744Stop |
1 |
|
PRPF31 | ||
| |
p.Cys299Arg |
1 |
| |
p.Thr494Met |
3 |
|
CRX | ||
| |
p.Arg41Gln |
1 |
|
NR2E3 | ||
| |
p.Gly56Arg |
1 (microarray genotyping) + |
| |
|
5 (direct sequencing) |
| Total | 20 (microarray genotyping) + 6 (direct sequencing) | |
*Detected by direct sequencing, microarray genotyping false negative.