Table 2 of
Gupta, Mol Vis 2022; 28:203-219. Table 2 of
Gupta, Mol Vis 2022; 28:203-219.
Table 2. Summary of novel disease-causing mutations identified in our case series-continued (M) and (P) indicate confirmed maternal and paternal inherited allele variants by genetic testing, respectively.
| Subject | Gene | Allele 1 (A1) | Allele 2 (A2) |
|---|---|---|---|
| PT23 | PDE6B | c.2003A>T, p.Asp668Val | c.2193+1G>A (M) |
| PT24 | PDE6B | c.1933_1938delTACCAG (in-frame), p.Tyr645_Gln646del | c.2038C>T, p.Q680X (M) |
| PT25 | POC1B | c.114G>A, p.Trp38Ter (M) | c.114G>A, p.Trp38Ter |
| PT26 | POC1B | c.934delA, p.Arg312GlufsTer32 (P) | c.631A>G, p.Lys211Glu (M) |
| PT27 | PROM1 | c.1234delT, p.Tyr412Metfs*34 (M) | N/A |
| PT28 | PROM1 | c.1234delT, p.Tyr412Metfs*34 | N/A |
| PT29 | PROM1 | c.2198_2199delCT, p.Ser733CysfsTer4 | N/A |
| PT30 | PROM1 | c.2198_2199delCT, p.Ser733CysfsTer4 | N/A |
| PT31 | RDH12 | c.63_66delCATC, p.Ile22GlyfsTer19 (M) | c.63_66delCATC, p.Ile22GlyfsTer19 |
| PT32 | RDH12 | c.749T>C, p.Leu250Pro (M) | c.189delA, p.Ala64ProfsTer11 |
| PT33 | RDH5 | c.733+6T>C (M) | c.814_815delCT, p. p.Leu272AspfsTer63 |
| PT34 | RP1 | c.4746C>A, p.Cys1582Ter (exon 4) | c.2025dupA, p.Ser676Ilefs*22 (exon 4) |
| PT35 | RP1L1 | c.4396G>A, p.Glu1466Lys | N/A |
| PT36 | RP2 | c.663delT, p.Pro222GlnfsTer16 (M) | N/A |
| PT37 | RPGR | c.2945_2964delAAGAGGAGGAAGGAGAAGGG, p.Glu982GlyfsTer90 (M) | N/A |
| PT38 | RS1 | c.322_326+3delTTTGGGTAinsCT | N/A |
| PT39 | RS1 | c.511G>A p.Gly171Arg hemizygous (M) | N/A |
| PT40 | SNRNP200 | c.1662C>G, p.Ser554Arg (M) | N/A |
| PT41 | TRPM1 | c.2741 C>A, p.Ala914Glu (P) | c.3004A>T, p. Ile1002Phe (M) |
| PT42 | USH2A | c.133335_13343del9 (in-frame), p.Glu4445_Met4447del and c.13346_13347CT>TG, p.Ser4449Phe (M) | c.14219C>A, p.Ala4740Asp |
| PT43 | USH2A | c.1256G>T, p.Cys419Phe (P) | Large exon 27 deletion (M) |
| PT44 | VPS13B | Exon 40-43 duplication (M/P) | Exon 40-43 duplication (M/P) |