Table 1.
Mutations identified in LCA5
| Patient | Allele 1 | Allele 2 | Segregation | Reference (Allele 1/Allele 2) | ||
|---|---|---|---|---|---|---|
| DNA variant | Protein variant | DNA variant | Protein variant | |||
| 1 | c.835C>T | p.(Gln279*) | c.1756A>T | p.(Lys586*) | Yes | den Hollander et al 2007/Novel |
| 2 | c.1151delC | p.(Pro384Glnfs*18) | c.1151delC | p.(Pro384Glnfs*18) | Yes | den Hollander et al 2007 |
| 3 | c.633_639del | p.(Glu211Aspfs*13) | c.633_639del | p.(Glu211Aspfs*13) | M-yes; F-NT | Novel |
| 4 | c.3G>A | p.(Met1Ile) | c.835C>T | p.(Gln279*) | NT | Novel/den Hollander et al 2007 |
| 5 | c.1676C>A | p.(Ser559*) | c.1676C>A | p.(Ser559*) | Yes | Novel |
| 6 | c.367C>T | p.(Gln123*) | c.1756T>A | p.(Lys586*) | NT | Novel/Novel |
| 7 | c.1231+2insT | p.? | c.1231+2insT | p.? | Yes | Novel |
| 8 | c.142A>T | p.(Arg48*) | c.142A>T | p.(Arg48*) | NT | Novel |
| 9 | c.142A>T | p.(Arg48*) | c.142A>T | p.(Arg48*) | NT | Novel |
| 10 | c.1543_1544delinsA | p.(Ser515Lysfs*78) | c.1543_1544delinsA | p.(Ser515Lysfs*78) | NT | Novel |
| 11 | c.795T>G | p.(Tyr265*) | c.1759_1760insAG | p.(Leu587Glnfs*7) | NT | Novel/Novel |
| 12 | c.835C>T | p.(Gln279*) | c.835C>T | p.(Gln279*) | NT | den Hollander et al 2007 |
| 13 | c.42_45del | p.(Lys15Glnfs*95) | c.1207C>T | p.(Gln403*) | NT | Novel/Novel |
| 14 | c.1730dup | p.(Leu577Phefs*12) | + | + | NT | Novel |
| 15 | c.2011C>T | p.(Arg671*) | + | + | NT | Novel |
| 16 | c.69C>G | p.(Tyr23*) | c.491A>G | p.(His164Arg) | NT | Novel/Novel |
| 17 | c.439_449dup | p.(Glu151*) | c.439_449dup | p.(Glu151*) | Yes | Novel |
| 18 | c.1151delC | p.(Pro384Glnfs*18) | c.1151delC | p.(Pro384Glnfs*18) | Yes | den Hollander et al 2007 |
Mutation nomenclature is based on NM_181714.3
F, father; M, mother; NT, not tested; +, not identified