Table 2 of Abouzeid, Mol Vis 2009; 15:771-777. Table 2 of Abouzeid, Mol Vis 2009; 15:771-777.
Table 2. Clinical features and mutations description of 17 affected patients with hereditary retinoblastoma and/or retinoma harboring RB1 mutations.
| Patient number |
Family number |
Age at diagnosis |
Disease-eye ratio |
Right eye foci |
Left eye foci |
Mutation location Exon |
DNA Alteration |
Protein Alteration |
|---|---|---|---|---|---|---|---|---|
| 1 | F1 | 43 y | 1.3 | - | 1 rc | 1 | g.2179_2183dupGGACC | L42RfsX25 |
| 2 | F2 | 2y | 1.1 | 2 rc | Rb | 1 | g.2196G>A | R46K |
| 3 | F2 | 4 y 2 m | 1.1 | - | 1 rc | 1 | g.2196G>A | R46K |
| 4 | F2 | 62 y | 1.1 | - | 1 rc | 1 | g.2196G>A | R46K |
| 5 | F3 | 33 y | 1.7 | 4 rc | 2 rc | 10 | g.64407delT * | 348X |
| 6 | F4 | 5 y 8 m | 1.8 | 3 rc | 1 rc | 11 | g.65386C>T | R358X |
| 7 | F4 | 8 m | 1.8 | 2 rc | Rb | 11 | g.65386C>T | R358X |
| 8 | F4 | 30 y 8 m | 1.8 | 1 rc | 1 rc | 11 | g.65386C>T | R358X |
| 9 | S | 6 y 10 m | - | 1 rc | 1Rb | 13 | g.73843C>T | Q436X |
| 10 | F5 | 35 y 10 m | 1.4 | 1 rc | 1 rc | 14 | g.76430C>T | R445X |
| 11 | S | 39 y | - | 2 rc | 1 rc** | 19 | g.153236A>T* | K615X |
| 12 | F6 | 1 year 6 m | 2 | Rb | 1 rc | 20 | g.156743delTCTG * | 675X |
| 13 | F7 | 32 y 2 m | 2 | 1 rc | 2 rc | 21 | g.160834G>C | E737D |
| 14 | F8 | 40 y 2 m | 1.7 | 1 rc | 1 rc | 22 | g.162078delA* | A766fsX44 |
| 15 | F8 | 36 y 11 m | 1.7 | 3 rc | 1 rc | 22 | g.162078delA* | A766fsX44 |
| 16 | F9 | 8 y 9 m | 1.3 | 7 rc | 5 rc | 23 | g.162237C>T | R787X |
| 17 | F9 | 1 y10 m | 1.3 | Rb | 1 rc | 23 | g.162237C>T | R787X |