Table 3. Homozygous regions and mutations identified in this study.
| Family ID | Disease | Genotyping Method | Size of homozygous region, in Mb | Chromosome | Gene | DNA mutation | Predicted protein variant | Coverage | Reference sequence | Previously reported | SIFT | Polyphen |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1 | Eord | WES | 30.4 | 8q21.3 | CNGB3 | c.[607C > T];[607C > T] | p.(R203*);(R203*) | 26 | NM_019098.4 | [21] | — | — |
| F2 | RP | IROme | — | 16q21 | CNGB1 | c.[2293C > T];[2293C > T] | p.(R765C); (R765C) | — | NM_001297.4 | This study and [8] | 0 | 1,00 |
| F3 | Stargardt | WES | 5.8 | 1p22.1 | ABCA4 | c.[2345G > A];[2345G > A] | p.(W782*); (W782*) | 5 | NM_000350.2 | [28] | — | — |
| F4 | RP | WES | 12.2 | 15q23 | NR2E3 | c.[932G > A];[932G > A] | p.(R311Q); (R311Q) | 24 | NM_014249.3 | [35] | 0.10 | 0.627 |
| F5 | RP | WES | 54.1 | 1p31.3-p31.2 | RPE65 | c.[544C > T];[544C > T] | p.(H182Y); (H182Y) | 36 | NM_000329.2 | [30] | 0 | 0.872 |
| F6 | Eord | WES | 18.2 | 1p31.3-p31.2 | RPE65 | c.[1129-2A > G];[1129-2A > G] | — | 30 | NM_000329.2 | This study | — | — |
| F7 | RP | IROme | — | 1p31.3-p31.2 | RPE65 | c.[325C > T];[569T > A] | p.(R91W); (V172D) | — | NM_000329.2 | This study | 0.01/0.01 | 0.997/0.721 |
| F8 | RP | WES | 9 | 4p15.32 | PROM1 | c.[1354dupT];[1354dupT] | p.(Y452fs*12); (Y452fs*12) | 12 | NM_001145848.1 | [42] | — | — |
| F9 | LCA | WES | 58 | 6q12 | EYS | c.[5928-2A > G];[5928-2A > G] | — | 24 | NM_001292009.1 | [23] | — | — |
| F10 | RP | IROme | — | 4p16.3 | PDE6B | c.[1010A > G];[1010A > G] | p.(H337R); (H337R) | — | NM_001145291.1 | This study and [8] | 1.00 | 0.046 |
| F11 | RP | WES | 13 | 2p15 | FAM161A | c.[678_681delGAAG]; [678_681delGAAG] | p.(K227Nfs*17); (K227Nfs*17) | 94 | NM_001201543 | This study | — | — |
| F12 | RP | WES | 8 | 2q31.3 | CERKL | c.[1133 + 3-1133 + 6delAAGT]; [1133 + 3-1133 + 6delAAGT] | — | 21 | NM_201548.4 | This study | — | — |
| F13 | RP | — | — | 2q31.3 | CERKL | c.[1133 + 3-1133 + 6delAAGT]; [1133 + 3-1133 + 6delAAGT] | — | — | NM_201548.4 | This study | — | — |
| F14 | RP | — | — | 2q31.3 | CERKL | c.[1133 + 3-1133 + 6delAAGT]; [1133 + 3-1133 + 6delAAGT] | — | — | NM_201548.4 | This study | — | — |
| F15 | RP | — | — | 2q31.3 | CERKL | c.[1133 + 3-1133 + 6delAAGT]; [1133 + 3-1133 + 6delAAGT] | — | — | NM_201548.4 | This study | — | — |