Table 1.
Clinical & family history of RB patients and samples selected for NGS
| Patient no | Age (months)/Sex | Laterality | Family history | Samples analysed by NGS |
|---|---|---|---|---|
| RB1 | 4/F | Bilateral | Father with regressed RB | Patient’s blood |
| RB2 | 1/F | Bilateral | Father with regressed RB | Patient’s blood |
| RB3 | 33/F | Bilateral | Nil | Patient’s blood |
| RB4 | 4/M | Bilateral | Mother and sibling affected with RB | Patient’s blood |
| RB5 | 0/F | Bilateral | Nil | Patient’s blood |
| RB6 | 31/F | Bilateral | Three siblings affected with RB | Patient’s blood |
| RB7 | 39/F | Bilateral | Father affected with RB | Patient’s and Father’s blood |
| RB8 | 44/M | Unilateral | Nil | Patient’s blood and tumor |
| RB9 | 7/F | Unilateral | Nil | Patient’s tumor |
| RB10 | 0/M | Unilateral | Nil | Patient’s tumor |
| RB11 | 5/F | Unilateral | One sibling affected with RB | Patient’s and Sibling’s blood |
| RB12 | 14/M | Unilateral | Nil | Patient’s blood and tumor |
| RB13 | 12/M | Bilateral | Nil | Patient’s blood |
| RB14 | 44/F | Bilateral | Father and sibling affected with RB | Patient’s blood |
| RB15 | 11/M | Bilateral | Father affected with RB | Patient’s blood |
| RB16 | 0/M | Bilateral | Nil | Patient’s blood |
| RB17 | 0/M | Bilateral | Father and sibling affected with RB | Patient’s blood |
| RB18 | 26/F | Bilateral | Nil | Patient’s blood |
| RB19 | 36/F | Bilateral | Nil | Patient’s blood |
| RB20 | 31/M | Bilateral | Nil | Patient’s blood |
| RB21 | 12/M | Unilateral | Nil | Patient’s tumor |
| RB22 | 18/F | Unilateral | Nil | Patient’s tumor |
| RB23 | 19/M | Bilateral | Father and sibling affected with RB | Patient’s blood |
| RB24 | 26/F | Bilateral | Nil | Patient’s blood |
| RB25 | 8/F | Bilateral | Nil | Patient’s blood and tumor |
| RB26 | 12/F | Bilateral | Nil | Patient’s blood |
| RB27 | 66/F | Bilateral | Nil | Patient’s blood |
| RB28 | 58/F | Unilateral | Nil | Patient’s tumor |
| RB29 | 28/M | Unilateral | Nil | Patient’s tumor |
| RB30 | 18/M | Unilateral | Nil | Patient’s tumor |
| RB31 | 88/M | Unilateral | Nil | Patient’s tumor |
| RB32 | 27/M | Unilateral | Nil | Patient’s tumor |
| RB33 | 3/M | Bilateral | Nil | Patient’s blood |
The age at which first sign was detected is given in months. Laterality was confirmed by the clinical investigations and imaging (CT Scan/MRI, Ultrasound, Retcam). Family history was ascertained by three or four generation pedigree. NGS was performed on patient’s tumor wherever available. In three patients (RB8, RB12 and RB25), both blood and tumor samples were analyzed. In two families, affected members were also included for NGS along with patients (RB7 and RB11).