Table 2 Characterization of the genetic variants of inherited retinal diseases of the negative WES cases. XLRP = X-linked RP, NA = not applicable. * = premature termination of translation
From: Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Case | Age | Sex | Gene (Phenotype) | Chromosome:Genomic variant | Exon | DNA change | Protein change | Zygosity | Variant type not covered by WES |
|---|---|---|---|---|---|---|---|---|---|
1 | 13 | M | RPGR (XLRP) | X:38145846_38145847delCT | ORF15 | c.2405_2406del | p.Glu802Glyfs*32 | Hemizygous | Frameshift deletion |
2 | 25 | F | RPGR (XLRP) | X:38145846_38145847delCT | ORF15 | c.2405_2406del | p.Glu802Glyfs*32 | Heterozygous | Frameshift deletion |
3 | 61 | M | RPGR (XLRP) | X:38145846_38145847delCT | ORF15 | c.2405_2406del | p.Glu802Glyfs*32 | Hemizygous | Frameshift deletion |
4 | 37 | M | RPGR (XLRP) | X:38146058delC | ORF15 | c.2194del | p.Glu732Argfs*83 | Hemizygous | Frameshift deletion |
5 | 47 | M | RPGR (XLRP) | X:38145825delCT | ORF15 | c.2426_2427del | p.Glu809Glyfs*25 | Hemizygous | Frameshift deletion |
6 | 49 | M | RPGR (XLRP) | X:38145825delCT | ORF15 | c.2426_2427del | p.Glu809Glyfs*25 | Hemizygous | Frameshift deletion |
7 | 41 | M | RPGR (XLRP) | X:38145224delCC | ORF15 | c.3027_3028del | p.Glu1010Glyfs*68 | Hemizygous | Frameshift deletion |
8 | 74 | M | RPGR (XLRP) | X:38145775del38145775 | ORF15 | c.2467_2477del | p.Arg826Glyfs*8 | Hemizygous | Frameshift deletion |
9 | 55 | M | RPGR (XLRP) | X:38145775delCTCT | ORF15 | c.2474_2477del | p.Glu825Glyfs*263 | Hemizygous | Frameshift deletion |
10 | 21 | M | RPGR (XLRP) | X:38145500C > A | ORF15 | c.2752G > T | p.Glu918* | Hemizygous | Nonsense |
11 | 44 | M | RPGR (XLRP) | X:38145182C > A | ORF15 | c.3070G > T | p.Glu1024* | Hemizygous | Nonsense |
12 | 74 | M | RPGR (XLRP) | X:38145182C > A | ORF15 | c.3070G > T | p.Glu1024* | Heterozygous | Nonsense |
13 | 44 | M | RPGR (XLRP) | X:38145846_38145847delCT | ORF15 | c.2405_2406del | p.Glu802Glyfs*32 | Hemizygous | Frameshift deletion |
14 | 19 | F | RPGR (XLRP) | X:38145846_38145847delCT | ORF15 | c.2405_2406del | p.Glu802Glyfs*32 | Heterozygous | Frameshift deletion |
15 | 39 | M | RPGR (XLRP) | X:38145750_38145751delCT | ORF15 | c.2501_2502del | p.Glu834Glyfs*244 | Hemizygous | Frameshift deletion |
16 | 35 | M | MAK (RP62) | 6:10791926_10791927ins(353) | 10 of 14 | c.1297_1298ins(353) | p.Lys433_Lys434ins (1) | Homozygous | 353-bp Alu repeat insertion |
17 | 33 | M | MAK (RP62) | 6:10791926_10791927ins(353) | 10 of 14 | c.1297_1298ins(353) | p.Lys433_Lys434ins (1) | Homozygous | 353-bp Alu repeat insertion |
18 | 57 | M | MAK (RP62) | 6:10791926_10791927ins(353) | 10 of 14 | c.1297_1298ins(353) | p.Lys433_Lys434ins (1) | Homozygous | 353-bp Alu repeat insertion |
19 | 76 | M | MAK (RP62) | 6:10791926_10791927ins(353) | 10 of 14 | c.1297_1298ins(353) | p.Lys433_Lys434ins (1) | Homozygous | 353-bp Alu repeat insertion |
20 | 45 | M | MAK (RP62) | 6:10791926_10791927ins(353) | 10 of 14 | c.1297_1298ins(353) | p.Lys433_Lys434ins (1) | Homozygous | 353-bp Alu repeat insertion |
21 | 51 | F | EYS (RP25) | 6:65603049_65657244del 6:65506901_65555979del | 15–18 of 43 20–22 of 43 | NA NA | NA NA | Heterozygous Heterozygous | Deletion Deletion |
22 | 40 | M | PRPF31 (RP11) | 19:54577171_54630008del | 1–10 of 14 | NA | NA | Heterozygous | Copy number loss |
23 | 43 | F | ABCA4 (STGD1) | 1:94525509 T > C 1:94473807C > T | Intron 30 of 49 42 of 50 | c.2160 + 584A > G c.5882G > A | NA p.Gly1961Glu | Heterozygous Heterozygous | Intronic Missense |
24 | 76 | M | ABCA4 (STGD1) | 1:94492916C > T 1:94544977A > T | Intron 30 of 49 9 of 50 | c.4539 + 2085G > A c.1140 T > A | NA p.Asn380Lys | Heterozygous Heterozygous | Intronic Missense |
25 | 6 | F | GUCY2D (LCA1) | 17:7906676CTT > CTTTT 17:7910183G > C | 2 of 20 Intron 4 of 19 | c. 312_313dupTT c.1378 + 151C > G | p.Cys105Phefs*25 NA | Heterozygous Heterozygous | Frameshift insertion Intronic |