Table 1. Potential pathogenic mutations detected in 10 of the 47 families.
Family ID | Gene | Variations | Status | Bioinformation analysis | Allele frequency in | Reference | |||||
DNA | Protein | SIFT | Polyphen-2 | Splice | Phastcons _score | patients | controls | ||||
Family 1 | ABCA4 | c.4604dup | p.T1537Nfs*18 | hetero | – | – | – | 0.997 | 1/94 | 0/384 | novel |
Family 1 | ABCA4 | c.1957C>T | p.R653C | hetero | D | PD | – | 1.000 | 1/94 | NA | [38] |
Family 2 | CNGB3 | c.1774dup | p.E592Gfs*44 | homo | – | – | – | 1.000 | 2/94 | 0/384 | novel |
Family 3 | CNGB3 | c.129+1G>A | – | homo | – | – | DSA | 1.000 | 2/94 | 0/384 | novel |
Family 4 | CNGB3 | c.2415A>C | p.E805D | hetero | D | PD | – | 1.000 | 1/94 | NA | rs186448979# |
Family 4 | CNGB3 | c.1957G>A | p.A653T | hetero | tolerated | benign | – | 0.000 | 1/94 | 0/384 | novel |
Family 5 | PDE6C | c.1935+1del | – | hetero | – | – | DSA | 1.000 | 1/94 | 0/384 | novel |
Family 5 | PDE6C | c.2518+5G>C | NA | hetero | – | – | DSA | 0.112 | 1/94 | 0/384 | novel |
Family 6 | PDE6C | c.1004+1G>A | – | homo | – | – | DSA | 1.000 | 2/94 | 0/384 | novel |
Family 7 | RPGRIP1 | c.2592T>G | p.Y864* | hetero | – | – | – | 0.994 | 1/94 | 0/384 | novel |
Family 7 | RPGRIP1 | c.799C>T | p.R267* | hetero | – | – | – | 1.000 | 1/94 | NA | [36] |
Family 8 | CACNA1F | c.2542G>A | p.G848S | hemi | tolerated | benign | – | 1.000 | 1/94 | 0/384 | novel |
Family 9 | RPGR | c.785C>G | p.A262G | hemi | tolerated | benign | – | 0.002 | 1/94 | NA | [39] |
Family10 | RPGR | c.2447_2461del | p.G816_E820del | hemi | – | – | – | NA | 1/94 | NA | [40] |
Note: D = damaging; PD = probably damaging; DSA = donor site abolished.
The variation was found in 1000 Genomes database with the Global minor allele frequency (MAF) of G = 0.001/3 so that the pathogeneity of the variants in this family need to be clarified further.