Table 4. Classification of RB in patients with positive and negative test results for germline RB1 mutations detected by direct sequencing in combination with MLPA.
| Detection | Mutation type | No. of eyes |
Number of eyes in ICRB stages |
|||||
|---|---|---|---|---|---|---|---|---|
| A | B | C | D | E | Ex | |||
| Positive |
Nonsense | 9 | - | 1 | - | 2 | 4 | 2 |
| Splicing | 7 | - | - | 1 | 1 | 5 | - | |
| Frameshift | 4 | - | - | - | 2 | 2 | - | |
| Missense | 3 | - | 1 | - | - | 2 | - | |
| Promoter | 3 | - | - | - | - | 2 | 1 | |
| Gross deletion | 5 |
- |
- |
- |
- |
3 |
2 |
|
| |
31 |
- |
2
(6.5%) |
1
(3.2%) |
5 (16.1%) |
18
(58.1%) |
5
(16.1%) |
|
| Negative |
|
20# |
- |
- |
- |
8
(40.0%) |
11
(55.0%) |
1
(5.0%) |
| Total | 51 | - | 2 (3.9%) | 1 (1.9%) | 13 (25.5%) | 29 (56.9%) | 6 (11.8%) | |
Tumor exhibiting more advanced stage in one eye than the other is reported for bilateral patients. #Data of one patient with a negative test result were not available. Abbreviation: Ex, extraocular RB.