Table 1.
Summary of the genetic findings in the analyzed patients.
| Patient ‡ | Diagnosis | Gene | RefSeq | Allele 1 (nt †) | Allele 1 (prot. §) | Reference | Allele 2 (nt †) | Allele 2 (prot. §) | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | LCA | PCYT1A | NM_005017 | chr3:195966468; c.847C>T | p.(R283*) | [34] | chr3:195975135; c.277G>A | p.(A93T) | [35] |
| 7 | LCA | PCYT1A | NM_005017 | chr3:195966468; c.847C>T | p.(R283*) | [34] | chr3:195975135; c.277G>A | p.(A93T) | [35] |
| 8 | ACHM | CNGB3 | NM_019098 | chr8:87656009; c.1148delC | p.(T383fs) | [36] | chr8:87660049; c.970A>G | p.(R324G) | this study |
| 9 | ACHM | CNGB3 | NM_019098 | chr8:87656009; c.1148delC | p.(T383fs) | [36] | chr8:87660049; c.970A>G | p.(R324G) | this study |
| 10 | LCA | CNGB3 | NM_019098 | chr8:87656009; c.1148delC | p.(T383fs) | [36] | chr8:87645015; c.1285delT | p.(S429fs) | this study |
| 12 | LCA | SPATA7 | NM_001040428 | chr14:88893049; c.749+1G>A | p.? | [37] | chr14:88903937; c.1115A>G | p.(E372G) | this study |
| 15 | EORP | CLN3 | NM_001042432 | chr16:28497785; c.258_259del | p.(G187fs) | [38] | chr16:28497972; c.161-1G>C | p.? | [38] |
| 16 | LCA | CRB | NM_001193640 | chr1:197396689; c.1898C>T | p.(T633M) | [39] | chr1:197404419; c.3091delT | p.(C1031fs) | [40] |
| 19 | EORP | RP2 | NM_006915 | chrX:46713166; c.358C>T | p.(R120*) | [41] | - | ||
| 21 | EORP | IQCB1 | NM_001023571 | chr3:121491506; c.1066C>T | p.(R356*) | [42] | chr3:121491506; c.1066C>T | p.(R356*) | [42] |
| 22 | EORP | AIPL1 | NM_001033054 | chr17:6329101; c.645G>A | p.(W215*) | [43] | chr17:6329101; c.645G>A | p.(W215*) | [43] |
| 23 | LCA | CEP290 | NM_025114 | chr12:88490755; c.3012delA | p.(K1004fs) | this study | chr12:88477704; c.4732G>T | p.(E1578*) | [44] |
| 24 | ACHM | CNGA3 | NM_001079878 | chr2:99013274; c.1587C>A | p.(F529L) | [45] | chr2:99013274; c.1587C>A | p.(F529L) | [45] |
| 25 | LCA | GUCY2D | NM_000180 | chr17:7917236; c.2302C>T | p.(R768W) | [46] | chr17:7917236; c.2302C>T | p.(R768W) | [46] |
| 27 | LCA | NMNAT1 | NM_022787 | chr1:10032184; c.53A>G | p.(N18S) | [47] | chr1:10042461; c.542A>G | p.(Y181C) | [48] |
| 29 | LCA | PCYT1A | NM_005017 | chr3:195966417; c.897+1G>A | p.? | [34] | chr3:195975135; c.277G>A | p.(A93T) | [35] |
| 31 | EORP | CEP290 | NM_025114 | chr12:88449397; c.6916A>T | p.(R2306*) | this study | chr12:88508262; c.1987A>T | p.(K663*) | [49] |
| 32 | EORP | IQCB1 | NM_001023570 | chr3:121527767; c.479_482del | p.(I160fs) | this study | chr3:121515964; c.876+1G>T | p.? | this study |
| 33 | LCA | CRB1 | NM_001193640 | chr1:197237597; c.55_56insT | p.(L19fs) | [50] | chr1:197391051; c.1757G>A | p.(C586Y) | this study |
| 36 | EORP | TULP1 | NM_001289395 | chr6:35467808; c.1286G>A | p.(R429Q) | [51] | chr6:35467808; c.1286G>A | p.(R429Q) | [51] |
| 37 | EORP | CRB1 | NM_001193640 | chr1:197390271; c.977G>A | p.(C326Y) | [52] | chr1:197390271; c.977G>A | p.(C326Y) | [52] |
| 39 | ACHM | PDE6C | NM_006204 | chr10:95415598; c.2017G>T | p.(D673Y) | this study | chr10:95415598; c.2017G>T | p.(D673Y) | this study |
| 40 | ACHM | CNGA3 | NM_001079878 | chr2:99012747; c.1060C>T | p.(P354S) | [53] | chr2:99012747; c.1060C>T | p.(P354S) | [53] |
| 41 | LCA | RPGRIP1 | NM_020366 | chr14:21762833; c.86-3T>G | p.? | this study | chr14:21793399; c.2225_2226del | p.(G742fs) | this study |
| 42 | LCA | GUCY2D | NM_000180 | chr17:7912823; c.1669-1G>A | p.? | this study | chr17:7912823; c.1669-1G>A | p.? | this study |
LCA: Leber congenital amaurosis; ACHM: achromatopsia; EORP: early onset retinitis pigmentosa; nt: nucleotide; ‡ No pathogenic variants were identified in the following LCA (pt. 1, 2, 3, 4, 5, 11, 17, 30, 38) and EORP patients (pt. 13, 18, 20, 28, 35, 43). In the LCA patients 14, 26, and 34 only a single heterozygous mutation was identified in the CEP290 gene (Table S2). † Nucleotide variation; § Predicted protein change.