Table 1 Type of genetic abnormalities
From: Retinoblastoma genetics screening and clinical management
S. nos. | Genetic abnormality | Number of mutations | Number of patients | Component of novel mutation | No of pts with novel mutation | Unilateral /bilateral |
|---|---|---|---|---|---|---|
1 | Whole gene deletion | NA | 4 | NA | NA | 1:3 |
2 | Missense mutation | 7 | 7 | 2 | 2 | 3:4 |
3 | Frame shift | 1 | 1 | NIL | NIL | 0:1 |
4 | Splice site | 3 | 4 | 1 | 1 | 0:4 |
5 | Non-SENSE | 10 | 13 | NIL | NIL | 0:13 |
Total | Â | 19 | 29 | 3 | 7 | 4:25 |