Table 1. Size of homozygous blocks and the known LCA candidate genes identified in LCA families and the arRP family.
S.No | Family ID | Number of Affected individuals taken for analysis | Size of the homozygous block in which known candidate gene(s) were present (Mb) | Chromosome location | Genes Screened | Gene reference ID |
---|---|---|---|---|---|---|
1. | LCA-1 | 2 | 13 | 1p31.3 | RPE65 | NM_000329.2 |
2. | LCA-2 | 4 | 26 | 1q31.3 | CRB1 | NM_001257965.1 |
3. | LCA-3 | 2 | 3 | 17p31.1 | GUCY2D | NM_000180.3 |
4. | LCA-4 | 2 | 4.7 | 3q13.3 | IQCB1 | NM_001023570.2 |
5. | LCA-5 | 2 | 3.7 | 17p13.2 | AIPL1 | NM_014226.3 |
6. | LCA-6 | 2 | 4.05 | 14q11.2 | RPGRIP1 | NM_020366.3 |
LCA-6 | 2 | 1 | 2q13 | MERTK | NM_006343.2 | |
7. | LCA-7 | 2 | 6 | 14q11.2 | RPGRIP1 | NM_020366.3 |
LCA-7 | 2 | 1.3 | 14q24.1 | RDH12 | NM_152443.2 | |
8. | LCA-8 | 1 | 5 | 17p13.2 | AIPL1 | NM_014226.3 |
9. | LCA-9 | 2 | 30 | 1p31.3 | RPE65 | NM_000329.2 |
10. | LCA-10 | 2 | 4.9 | 17p13.2 | AIPL1 | NM_014226.3 |
11. | LCA-11 | 2 | 6 | 14q31.3 | SPATA7 | NM_018418.4 |
12. | arRP 1 | 3 | 1.1 | 2q13 | MERTK | NM_006343.2 |