Table 3 of
van Huet, Mol Vis 2015; 21:461-476. Table 3 of
van Huet, Mol Vis 2015; 21:461-476.
Table 3. Mutations identified by microarray chip analysis and additional Sanger sequencing in the patients included in this study.
| cDNA mutation (reference sequence) | Effect (RNA/protein) | EVS minor allele frequency in %† | Predicted pathogenicity‡ | Frequency of variant in this cohort (%) | Reference |
|---|---|---|---|---|---|
| CERKL (NM_001030311.1) | 1 (0.8) | ||||
| c.847C>T | p.Arg283* | 0.048 | Pathogenic | 1 (0.8) | [44,45] |
| CLRN1 (NM_174878.2) | 1 (0.8) | ||||
| c.149_152delins8 | p.Ser50fs | 0.008 | Pathogenic | 1 (0.8) | [46,47] |
| CNGA1 (NM_000087.3) | 3 (2.5) | ||||
| c.94C>T | p.Arg32* | NA | Pathogenic | 2 (1.7) | [48] |
| c.959C>T | p.Ser320Phe | NA | Probably pathogenic | 1 (0.8) | [49] |
| CRB1 (NM_201253.1) | 11 (9.2) | ||||
| c.613_619del | p.Ile205fs | NA | Pathogenic | 1 (0.8) | [50,51] |
| c.614T>A | p.Ile205Lys | NA | Probably pathogenic | 1 (0.8) | This study |
| c.614T>C | p.Ile205Thr | 0.038 | Possibly pathogenic | 1 (0.8) | [52,53] |
| c.1602G>T | p.Lys534Asn | NA | Probably pathogenic | 1 (0.8) | [17] |
| c.1892A>G | p.Tyr831Cys | NA | Probably pathogenic | 2 (1.7) | This study |
| c.2234C>T | p.Thr745Met | 0.008 | Probably pathogenic | 2 (1.7) | [54] |
| c.2681A>G | p.Asn894Ser | 0.008 | Possibly pathogenic | 1 (0.8) | [25,55] |
| c.2842+5G>A | splicing | NA | Possibly pathogenic | 1 (0.8) | [54] |
| c.2945C>A | p.Thr982Lys | NA | Probably pathogenic | 1 (0.8) | [31] |
| EYS (NM_001142800.1) | 2 (1.7) | ||||
| c.9405T>A | p.Tyr3135* | NA | Pathogenic | 2 (1.7) | [56] |
| NR2E3 (NM_014249.2) | 5 (4.2) | ||||
| c.119–2A>C | splicing | NA | Possibly pathogenic | 3 (2.5) | [46] |
| c.227G>A | p.Arg76Gln | 0.032 | Probably pathogenic | 1 (0.8) | [46,47] |
| c.932G>A | p.Arg311Gln | 0.024 | Probably pathogenic | 1 (0.8) | [46] |
| PDE6A (NM_000440.2) | 21 (17.5) | ||||
| c.304C>A | p.Arg102Ser | 0.015 | Probably pathogenic | 10 (8.3) | [25,57,58] |
| c.769C>T | p.Arg257* | 0.015 | Pathogenic | 1 (0.8) | [59] |
| c.878C>T | p.Pro293Leu | 0.361 | Possibly benign | 1 (0.8) | [57] |
| c.937del | p.Ile313fs | NA | Pathogenic | 1 (0.8) | This study |
| c.1032C>T | p.Ser344Ser (splicing) | NA | Possibly pathogenic | 1 (0.8) | This study |
| c.1171G>A | p.Val391Met | 1.699 | Possibly pathogenic | 4 (3.3) | [57] |
| c.1705C>A | p.Gln569Lys | 0.015 | Probably pathogenic | 1 (0.8) | [57] |
| c.1963C>T | p.His655Tyr | 2.091 | Possibly benign | 2 (1.7) | [60] |
| PDE6B (NM_000283.3) | 9 (7.5) | ||||
| c.220C>T | p.Arg74Cys | 0.038 | Pathogenic | 1 (0.8) | [61] |
| c.655T>C | p.Tyr219His | 0.538 | Probably pathogenic | 2 (1.7) | [17] |
| c.1107+3A>G | splicing | 0.015 | Probably pathogenic | 1 (0.8) | [17] |
| c.1401+4_1401+48del | splicing | NA | Possibly pathogenic | 1 (0.8) | This study |
| c.1798G>A | p.Asp600Asn | NA | Possibly pathogenic | 2 (1.7) | [58] |
| c.2503+5G>C | splicing | NA | Possibly pathogenic | 1 (0.8) | [17] |
| c.2503+2T>C | splicing | NA | Probably pathogenic | 1 (0.8) | This study |
| PROM1 (NM_006017.2) | 1 (0.8) | ||||
| c.1354dup | p.Tyr452fs | 0.049 | Pathogenic | 1 (0.8) | [62] |
| RDH12 (NM_152443.2) | 4 (3.3) | ||||
| c.379G>T | p.Gly127* | NA | Pathogenic | 4 (3.3) | [63] |
| RPE65 (NM_000329.2) | 3 (2.5) | ||||
| c.271C>T | p.Arg91Trp | 0.015 | Probably pathogenic | 1 (0.8) | [64,65] |
| c.963T>G | p.Asn321Lys | 0.077 | Possibly pathogenic | 1 (0.8) | [66,67] |
| c.1069dup | p.Asn356fs | NA | Pathogenic | 1 (0.8) | [68] |
| USH2A (NM_206933.2) | 59 (49.2) | ||||
| c.486–14G>A | Splicing | 0.008 | Probably pathogenic | 1 (0.8) | [69] |
| c.949C>A | p. Arg317Arg (Splicing) | NA | Possibly pathogenic | 1 (0.8) | [70-74] |
| c.1256G>T | p.Cys419Phe | 0.008 | Pathogenic | 3 (2.5) | [71,73,75] |
| c.1876C>T | p.Arg626* | NA | Pathogenic | 1 (0.8) | [71] |
| c.2276G>T | p.Cys759Phe | 0.154 | Pathogenic | 16 (13.3) | [52,76-80] |
| c.2299delG | p.Glu767fs*21 | 0.176 | Pathogenic | 3 (2.5) | [81] |
| c.2522C>A | p.Ser841Tyr | 0.531 | Possibly pathogenic | 3 (2.5) | [73,82] |
| c.3368A>G | p.Tyr1123Cys | NA | Probably pathogenic | 1 (0.8) | [83] |
| c.5728C>T | p.Gln1910* | NA | Pathogenic | 1 (0.8) | This study |
| c.5975A>G | p.Tyr1992Cys | 0.361 | Possibly pathogenic | 2 (1.7) | [80] |
| c.6049+1G>A | Splicing | NA | Pathogenic | 1 (0.8) | This study |
| c.7054C>T | p.Pro2352Ser | NA | Probably pathogenic | 1 (0.8) | This study |
| c.8723_8724del | p.Val2908fs | NA | Pathogenic | 2 (1.7) | [70] |
| c.9262G>A | p.Glu3088Lys | 0.450 | Probably benign | 2 (1.7) | [80] |
| c.9413G>A | p.Gly3138Asp | NA | Probably pathogenic | 1 (0.8) | This study |
| c.9433C>T | p.Leu3145Phe | 0.008 | Probably benign | 1 (0.8) | EVS (rs267598373) |
| c.9815C>T | p.Pro3272Leu | NA | Possibly pathogenic | 1 (0.8) | [84,85] |
| c.10073G>A | p.Cys3358Tyr | 0.054 | Probably pathogenic | 1 (0.8) | [25,80] |
| c.10525A>T | p.Lys3509* | NA | Pathogenic | 1 (0.8) | [17] |
| c.10561T>C | p.Trp3521Arg | NA | Probably pathogenic | 1 (0.8) | [74,80] |
| c.11677C>A | p.Pro3893Thr | 1.653 | Probably benign | 2 (1.7) | [74,86] |
| c.12328T>G | p.Tyr4110Asp | NA | Probably pathogenic | 1 (0.8) | This study |
| c.12343C>T | p.Arg4115Cys | 0.077 | Probably pathogenic | 5 (1.7) | [70,74,86] |
| c.13274C>T | p.Thr4425Met | NA | Probably pathogenic | 3 (2.5) | [17,70,74,86] |
| c.14803C>T | p.Arg4935* | 0.015 | Pathogenic | 1 (0.8) | [69,80,87] |
| c.15091C>T | p.Arg5031Trp | 1.284 | Probably benign | 1 (0.8) | [74] |
| c.15377T>C | p.Ile5126Thr | 2.422 | Probably pathogenic | 1 (0.8) | [11,80,88] |
| c.15433G>A | p.Val5145Ile | 0.408 | Pathogenic | 1 (0.8) | [52,78-80] |