Table 1.
Pathogenic variants identified in this study.
| Family ID |
Disease | Genotyping Method |
Size of homozygous region, in Mb | Chr | Gene | DNA pathogenic variant | Predicted protein variant | Reference sequence | Previously reported | SIFT | PolyPhen |
|---|---|---|---|---|---|---|---|---|---|---|---|
| F1 | LCA | WES | – | 14q11.2 | RPGRIP1 | c.[3113-3114delCT];[3113-3114delCT] | p.[T1038Rfs*8]; T1038Rfs*8] | NM_020366 | This study | – | – |
| F2 | LCA | IROme | – | 17p31.1 | GUCY2D | c.[2660 T > G];[2660 T > G] | p.[V887G];[V887G] | NM_000180 |
This study and6 |
0 | 0.999 |
| F3 | LCA | Asper | – | 1p31.3 | RPE65 | c.[700C > T];[700C > T] | p.[R234*];[R234*] | NM_000329 | 29 | – | – |
| F4 | LCA | WES | – | 3q13.33 | IQCB1 | c.[994C > T];[994C > T] | p.[R332*];[R332*] | NM_001023570 | 30 | – | – |
| F5 | LCA | WES | – | 1q31.3 | CRB1 | c.[3542 + 1G > A];[3542 + 1G > A] | – | NM_201253.2 | This study | – | – |
| F6 | CRD | WES | 40 | 1q31.3 | CRB1 | c.[2506C > A];[2506C > A] | p.[P836T];[P836T] | NM_201253.2 | 31 | 0.04 | 0.999 |
| F7 | CRD | WES | 124 | 1q31.3 | CRB1 | c.[ 2105A > G];[ 2105A > G] | p.[Y702C];[Y702C] | NM_201253.2 | 32 | 0 | 0.89 |
| F8 | CRD | WES | – | 10q23.1 | CDHR1 | c.[863-2_863-1delAG];[863-2_863-1delAG] | – | NM_033100 | This study | – | – |
| F9 | CRD | WES | – | 8q22.1 | C8ORF37 | c.[470 + 1G > T];[470 + 1G > T] | – | NM_177965 | This study | – | – |
| F10 | CRD | WES | – | 2p23.2 | C2ORF71 | c.[2756_2768del13];[ 2756_2768del13] | p.[K919Tfs*2];[ K919Tfs*2] | NM_001029883 | 33 | – | – |
| F11 | CRD | WES | 35 | 1p22.1 | ABCA4 | c.[1916A > G];[1916A > G] | p.[Y639C];[Y639C] | NM_000350.2 | This study | 0.01 | 1 |
| F12 | RP | WES | 77 | 1p22.1 | ABCA4 | c.[4139C > T];[4139C > T] | p.[P1380L];[P1380L] | NM_000350.2 | 34 | 0 | 0.716 |
| F13 | STGD | WES | – | 1p22.1 | ABCA4 | c.[1140 T > A];[1140 T > A] | p.[N380K];[N380K] | NM_000350.2 | 35 | 0.01 | 0.05 |
| F14 | STGD | WES | – | 1p22.1 | ABCA4 | c.[3259G > A];[3259G > A] | p.[E1087K]; [E1087K] | NM_000350.2 | 36 | 0 | 0.999 |
| F15 | CRD/STGD | WES | – | 1p22.1 | ABCA4 | c.[3259G > A];[3259G > A] | p.[E1087K]; [E1087K] | NM_000350.2 | 36 | 0 | 0.999 |
| F16 | RP | WES | – | 1p36.22 | NMNAT1 | c.[37G > A];[37G > A] | p.[A13T];[A13T] | NM_001297778.1 | 8 | 0 | 1 |
| F17 | RP | WES | – | 6p21.1 | PRPH2 | c.[133C > T];[ =] | p.[L45F];[ =] | NM_000322 | 37 | 0 | 0.991 |
| F18 | RP | WES | – | 2p15 | FAM161A | c.[685C > T];[685C > T] | p.[R229*];[R229*] | NM_001201543 | 38 | – | – |
| F19 | RP | WES | – | 16q21 | CNGB1 | c.[2293C > T];[2293C > T] | p.[R765C];[R765C] | NM_001297 |
This study and 6 |
0 | 0.999 |
| F20 | RP | WES | – | 6q12 | EYS | c.(1766 + 1_1767-1)_(2023 + 1_2024-1)del | – | NM_001292009 | 39 | – | – |
| F21 | RP | WES | – | 6q12 | EYS | c.[5928-2A > G];[5928-2A > G] | – | NM_001292009 | 9 | – | – |
| F22 | SBB | WES | – | 2q31.1 | BBS5 | c.[214G > A];[214G > A] | p.[G72S];[G72S] | NM_152384.2 | 40 | 0 | 1 |
| F23 | SBB | WES | 48 | 2q31.1 | BBS5 | c.[123delA];[123delA] | p.[G42Efs*11];[ G42Efs*11] | NM_152384.2 | 41 | – | – |
| F24 | ACHM | WES | 119 | 2q11.2 | CNGA3 | c.[1114C > T];[1114C > T] | p.[P372S];[P372S] | NM_001298.2 | 42 | 0 | 0.989 |
| F25 | ACHM | WES | 87c | 8q21.3 | CNGB3 | c.[1810C > T];[1810C > T] | p.[R604*];[R604*] | NM_019098.4 | 43 | – | – |
| F26 | CSNB | WES | – | 15q13.3 | TRPM1 | c.[3947 T > G];[3947 T > G] | p.[L1316R];[L1316R] | NM_002420.5 | This study | 0 | 0.075 |
Genes highlighted in bold harbor the novel pathogenic variants identified in this study.
LCA = Leber congenital amaurosis; RP = retinitis pigmentosa; CRD = cone-rod dystrophy; STGD = Stargardt disease; BBS = Bardet–Biedl syndrome; ACHM = Achromatopsia; CSNB = congenital stationary night blindness.