Table 2 Additional genomic analyses and results in unresolved cases.
ID | Age | Gender | AO | FamHx | Clinical diagnosis | Proband case | Approach | Final result | Gene | Transcript | Inh. pattern | Allele 1 | Allele 2 | Phenotypic match? | Segregation | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
cDNA | protein | cDNA | protein | ||||||||||||||
P418 | 54 | M | 20 | Yes | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + Digital PCR | Resolved | ARSG | NM_001267727.2 | AR | Chr17:66246319-66303862del | p.(?) | c.983-2_983-1del | p.(?) | Yes | trans |
P419 | 51 | F | 48 | Yes | Nonsyndromic retinitis pigmentosa | No | Sanger Sequencing + Digital PCR | Resolved | ARSG | NM_001267727.2 | AR | Chr17:66246319-66303862del | p.(?) | c.983-2_983-1del | p.(?) | Yes | trans |
P420 | 24 | F | 12 | No | Stargardt disease | Yes | WES reanalysis + ABCA4 panel | Resolved | ABCA4 | NM_000350.3 | AR | c.634C>T | p.(Arg212Cys) | c.4539+2064C>T | p.[=,Arg1514Leufs*36] | Yes | trans |
P421 | 52 | M | 41 | No | Stargardt disease | Yes | WES reanalysis | Resolved | ABCA4 | NM_000350.3 | AR | c.[3210_3211dup;5603A>T] | p.[Ser1071Cfs*14;Asn1868Ile] | c.5603A>T | p.(Asn1868Ile) | Yes | trans |
P422 | 40 | F | 25 | No | Stargardt disease | Yes | WES reanalysis | Resolved | ABCA4 | NM_000350.3 | AR | c.6056A>T | p.(Gln2019Leu) | c.1166C>A | p.(Ala389Glu) | Yes | trans |
P423 | 51 | M | 48 | No | Late onset Stargardt disease | Yes | WES reanalysis + ABCA4 panel | Resolved | ABCA4 | NM_000350.3 | AR | c.[5044_5058del;4926C>G] | p.[Val1682_Val1686del;Ser1642Arg] | c.5196+1137G>A | p.[=,Met1733Glufs*78] | Yes | trans |
P424 | 27 | F | 14 | No | Stargardt disease | Yes | WES reanalysis | Resolved | ABCA4 | NM_000350.3 | AR | c.5882G>A | p.(Gly1961Glu) | c.4877C>A | p.(Ala1626Asp) | Yes | trans |
P425 | 79 | F | 56 | No | Late onset Stargardt disease | Yes | WES reanalysis | Resolved | ABCA4 | NM_000350.3 | AR | c.3386G>T | p.(Arg1129Leu) | c.1244A>G | p.(Asn415Ser) | Yes | trans |
P426 | 53 | F | 50 | No | Late onset Stargardt disease | Yes | WES reanalysis | Resolved | ABCA4 | NM_000350.3 | AR | c.6272T>G | p.(Leu2091Arg) | c.5603A>T | p.(Asn1868Ile) | Yes | trans |
P427 | 30 | M | 27 | Yes | Stargardt disease | Yes | WES reanalysis | Resolved | ABCA4 | NM_000350.3 | AR | c.3386G>T | p.(Arg1129Leu) | c.52C>T | p.(Arg18Trp) | Yes | trans |
P428 | 55 | M | 50 | No | Late onset Stargardt disease | Yes | WES reanalysis + WGS | Resolved | ABCA4 | NM_000350.3 | AR | c.3056C>T | p.(Thr1019Met) | c.4253+43G>A | p.[=,Ile1377Hisfs*3] | Yes | trans |
P429 | 70 | F | 55 | No | Late onset Stargardt disease | Yes | WES reanalysis + WGS | Resolved | ABCA4 | NM_000350.3 | AR | c.3386G>T | p.(Arg1129Leu) | c.4539+2064C>T | p.[=,Arg1514Leufs*36] | Yes | trans |
P430 | 58 | F | 40 | No | Stargardt disease | Yes | WES reanalysis + WGS | Resolved | ABCA4 | NM_000350.3 | AR | c.5196+1137G>A | p.[=,Met1733Glufs*78] | c.[5461-10T>C;5603A>T] | p.[Thr1821Aspfs*6,Thr1821Valfs*13;Asn1868Ile] | Yes | trans |
P431 | 44 | M | 35 | No | Stargardt disease | Yes | WES reanalysis | Resolved | ABCA4 | NM_000350.3 | AR | c.[3617del;5603A>T] | p.[Asn1206Metfs*3;Asn1868Ile] | c.5603A>T | p.(Asn1868Ile) | Yes | trans |
P432 | 59 | M | 40 | No | Stargardt disease | Yes | WES reanalysis + WGS | Resolved | ABCA4 | NM_000350.3 | AR | c.3386G>T | p.(Arg1129Leu) | c.4539+2064C>T | p.[=,Arg1514Leufs*36] | Yes | trans |
P433 | 59 | M | 54 | No | Late onset Stargardt disease | Yes | WES reanalysis + WGS + MLPA | Resolved | ABCA4 | NM_000350.3 | AR | c.699_768+341del | p.(Gln234Phefs*5) | c.5603A>T | p.(Asn1868Ile) | Yes | trans |
P434 | 30 | F | 5 | No | Stargardt disease | Yes | WES reanalysis + ABCA4 panel + WGS + Midigene | Resolved | ABCA4 | NM_000350.3 | AR | c.634C>T | p.(Arg212Cys) | c.859-442C>T | p.[Phe287Tyrfs*33,Phe287_Glu518del,=, Phe287Hisfs*7] | Yes | trans |
P435 | 55 | M | 15 | Yes | Syndromic retinitis pigmentosa | Yes | WES reanalysis | Resolved | NPHP4 | NM_015102.5 | AR | c.2485+2T>C | p.(?) | c.2611+1G>A | p.(?) | Yes | trans |
P436 | 51 | M | 36 | Yes | Syndromic retinitis pigmentosa | No | Sanger Sequencing | Resolved | NPHP4 | NM_015102.5 | AR | c.2485+2T>C | p.(?) | c.2611+1G>A | p.(?) | Yes | trans |
P437 | 54 | M | 20 | No | Cone-rod dystrophy | Yes | WES reanalysis + Minigen | Resolved | TULP1 | NM_003322.6 | AR | c.822G>T | p.(Lys274Asn) | c.1376T>C | p.(Ile459Thr) | Yes | trans |
P438 | 60 | M | 31 | Yes | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + RPGR panel | Resolved | RPGR | NM_001034853.2 | XL | c.3116dup | p.(Glu1040Argfs*39) | Yes | inherited | ||
P439 | 46 | M | 28 | Yes | Nonsyndromic retinitis pigmentosa | No | Sanger Sequencing | Resolved | RPGR | NM_001034853.2 | XL | c.3116dup | p.(Glu1040Argfs*39) | Yes | inherited | ||
P440 | 51 | F | 30 | No | Syndromic retinitis pigmentosa | Yes | WES reanalysis + WGS + aCGH | Resolved | NPHP1 | NM_001128178.3 | AR | chr2:110853694-110985405del | p.(?) | chr2:110853694-110985405del | p.(?) | Yes | trans |
P441 | 33 | F | 25 | Yes | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Resolved | CERKL | NM_201548.5 | AR | c.769C>T | p.(Arg257*) | c.769C>T | p.(Arg257*) | Yes | trans |
P442 | 24 | M | 6 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + RPGR panel | Resolved | RPGR | NM_001034853.2 | XL | c.2527del | p.(Glu843Lysfs*246) | Yes | inherited | ||
P443 | 37 | F | 10 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + MLPA | Resolved | PDE6B | NM_000283.4 | AR | c.(?_-53)_(711 + 1_712-1)del | p.(?) | c.(?_-53)_(711 + 1_712-1)del | p.(?) | Yes | trans |
P444 | 22 | M | 4 | No | Syndromic retinitis pigmentosa | Yes | WES reanalysis | Resolved | HK1 | NM_033500.2 | AD | c.1334C>G | p.(Thr445Arg) | Yes | de novo | ||
P445 | 19 | M | 5 | No | Cone-rod dystrophy | Yes | WES reanalysis | Resolved | RPGRIP1 | NM_020366.3 | AR | c.1111C>T | p.(Arg371*) | c.2367+23delG | p.(?) | Yes | trans |
P446 | 27 | F | 2 | Yes | Usher syndrome | Yes | WES reanalysis + WGS | Resolved | USH2A | NM_206933.4 | AR | c.2299del | p.(Glu767Serfs*21) | c.11048-1055A>G | p.(?) | Yes | trans |
P447 | 30 | M | 16 | Yes | Usher syndrome | No | Sanger Sequencing | Resolved | USH2A | NM_206933.4 | AR | c.2299del | p.(Glu767Serfs*21) | c.11048-1055A>G | p.(?) | Yes | trans |
P448 | 21 | F | 10 | No | Cone dystrophy | Yes | WES reanalysis + mRNA | Resolved | ATF6 | NM_007348.4 | AR | c.160-8A>G | p.(Glu54Phefs*7) | c.160-8A>G | p.(Glu54Phefs*7) | Yes | trans |
P449 | 46 | M | 20 | Yes | Syndromic retinitis pigmentosa | Yes | WES reanalysis + ABCA4 panel | Inconclusive | ABCA4 | NM_000350.3 | AR | c.6424A>G | p.(Ile2142Val) | c.5603A>T | p.(Asn1868Ile) | Yes | trans |
P450 | 59 | M | 56 | Yes | Retinal pattern dystrophy | Yes | WES reanalysis + ABCA4 panel | Inconclusive | ABCA4 | NM_000350.3 | AR | c.5908C>T | p.(Leu1970Phe) | c.2744-9del | p.(?) | Yes | trans |
P451 | 78 | F | 50 | Yes | Late onset Stargardt disease | Yes | WES reanalysis + WGS | Inconclusive | ABCA4 | NM_000350.3 | AR | c.5882G>A | p.(Gly1961Glu) | Yes | ND | ||
P452 | 59 | F | 50 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + ABCA4 panel | Inconclusive | ABCA4 | NM_000350.3 | AR | c.3113C>T | p.(Ala1038Val) | Yes | ND | ||
P453 | 39 | M | 20 | No | Maculopathy | Yes | WES reanalysis + ABCA4 panel | Inconclusive | ABCA4 | NM_000350.3 | AR | c.4457C>T | p.(Pro1486Leu) | Yes | ND | ||
P454 | 78 | F | 30 | Yes | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis | Inconclusive | AHI1 | NM_017651.5 | AR | c.1205del | p.(Pro402Leufs*3) | No | ND | ||
P455 | 59 | M | 40 | Yes | Cone-rod dystrophy | Yes | WES reanalysis + WGS | Inconclusive | AIPL1 | NM_014336.5 | AD | c.112C>T | p.(Arg38Cys) | Yes | ND | ||
P456 | 63 | M | 38 | Yes | Cone-rod dystrophy | No | Sanger Sequencing | Inconclusive | AIPL1 | NM_014336.5 | AD | c.112C>T | p.(Arg38Cys) | Yes | ND | ||
P457 | 56 | F | 17 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | N/A | ND | |||||||
P458 | 67 | M | 47 | No | Cone-rod dystrophy | Yes | WES reanalysis + WGS | Inconclusive | SPG7 | NM_003119.4 | AR | c.1529C>T | p.(Ala510Val) | No | ND | ||
P459 | 70 | M | 12 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | ABCA4 | NM_000350.3 | AR | c.5603A>T | p.(Asn1868Ile) | c.3607+771G>A | p.(=) | Yes | ND |
P460 | 62 | M | 55 | Yes | Late onset Stargardt disease | Yes | WES reanalysis + WGS | Inconclusive | No | ND | |||||||
P461 | 36 | F | 27 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | MYO3A | NM_017433.5 | AR | c.4550C>G | p.(Ser1517*) | No | ND | ||
P462 | 33 | F | 20 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | RDH12 | NM_152443.3 | AD/AR | c.464C>T | p.(Thr155Ile) | Yes | inherited | ||
P463 | 57 | M | 52 | Yes | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | CNGA1 | NM_001379270.1 | AR | c.349G>T | p.(Glu117*) | Yes | ND | ||
P464 | 47 | M | 35 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | ABCA4 | NM_000350.3 | AR | c.5843C>T | p.(Pro1948Leu) | Yes | ND | ||
P465 | 56 | F | 24 | Yes | Central areolar choroidal dystrophy | Yes | WES reanalysis + ABCA4 panel + WGS | Inconclusive | ABCA4 | NM_000350.3 | AR | c.[5603A>T;2701A>G] | p.[Asn1868Ile;Thr901Ala] | Yes | ND | ||
P466 | 60 | M | 52 | No | Maculopathy | Yes | WES reanalysis + WGS | Inconclusive | ABCA4 | NM_000350.3 | AR | c.6148G>C | p.(Val2050Leu) | Yes | ND | ||
P467 | 27 | F | 23 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | N/A | ND | |||||||
P468 | 65 | F | 55 | No | Retinal pattern dystrophy | Yes | WES reanalysis + ABCA4 panel | Inconclusive | ABCA4 | NM_000350.3 | AR | c.4919G>A | p.(Arg1640Gln) | Yes | ND | ||
P469 | 70 | F | 55 | Yes | Late onset Stargardt disease | Yes | WES reanalysis + ABCA4 panel + WGS | Inconclusive | ABCA4 | NM_000350.3 | AR | c.[5549T>C;5603A>T] | p.[Leu1850Pro;Asn1868Ile] | Yes | ND | ||
P470 | 50 | F | 2 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | MKS1 | NM_017777.4 | AR | c.190+2T>C | p.(?) | No | ND | ||
P471 | 71 | F | 67 | No | Retinal pattern dystrophy | Yes | WES reanalysis | Inconclusive | NRL | NM_001354768.3 | AD/AR | c.654del | p.(Cys219Valfs*4) | No | ND | ||
P472 | 67 | F | 42 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | ABCA4 | NM_000350.3 | AR | c.5603A>T | p.(Asn1868Ile) | c.4539+859C>T | p.(=) | Yes | ND |
P473 | 48 | M | 11 | No | Maculopathy | Yes | WES reanalysis + WGS | Inconclusive | N/A | ND | |||||||
P474 | 51 | F | 46 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS + digital PCR | Inconclusive | ARHGEF18 | NM_001367823.1 | AR | Chr19:7434598-7442499-del | p.(?) | Yes | ND | ||
P475 | 50 | F | 43 | Yes | Retinal pattern dystrophy | Yes | WES reanalysis + WGS | Inconclusive | N/A | ND | |||||||
P476 | 41 | F | 28 | No | Nonsyndromic retinitis pigmentosa | Yes | WES reanalysis + WGS | Inconclusive | N/A | ND | |||||||
P477 | 38 | F | 15 | No | Cone-rod dystrophy | Yes | WES reanalysis | Inconclusive | VPS13B | NM_017890.5 | AR | c.11598del | p.(Glu3867Lysfs*11) | Yes | ND | ||
