Table 1 of
Yzer, Mol Vis 2012; 18:412-425. Table 1 of
Yzer, Mol Vis 2012; 18:412-425.
Table 1. CEP290 mutations in Leber congenital amaurosis patients.
| Allele 1 | Allele 2 | ||||
|---|---|---|---|---|---|
| Patient number | Origin | Mutation | Effect | Mutation | Effect |
| 1$ | Netherlands | c.2991+1655A>G | p.Cys998X | c.2991+1655A>G | p.Cys998X |
| 2$ | Netherlands | c.2991+1655A>G | p.Cys998X | c.2991+1655A>G | p.Cys998X |
| 3$ | Netherlands | c.2991+1655A>G | p.Cys998X | c.2991+1655A>G | p.Cys998X |
| 4 | Netherlands | c.2991+1655A>G | p.Cys998X | c.265dupA | p.Thr89AsnfsX1 |
| 5 | Netherlands | c.2991+1655A>G | p.Cys998X | c.679_680delGA | p.Glu227SerfsX1 |
| 6 | Netherlands | c.2991+1655A>G | p.Cys998X | c.180+1G>T | splice defect |
| 7 | Netherlands | c.2991+1655A>G | p.Cys998X | c.5668G>T | p.Gly1890X |
| 8§ | Canada | c.2991+1655A>G | p.Cys998X | c.2991+1655A>G | p.Cys998X |
| 9§ | Canada | c.2991+1655A>G | p.Cys998X | c.2991+1655A>G | p.Cys998X |
| 10 | Canada | c.2991+1655A>G | p.Cys998X | c.2991+1655A>G | p.Cys998X |
| 11 | Netherlands | c.2991+1655A>G | p.Cys998X | c.5587–1G>C | splice defect |
| 12 | Netherlands | c.2991+1655A>G | p.Cys998X | c.3814C>T | p.Arg1272X |
| 13 | Netherlands | c.2991+1655A>G | p.Cys998X | c.2991+1655A>G | p.Cys998X |
| 14 | Netherlands | c.2991+1655A>G | p.Cys998X | c.2991+1655A>G | p.Cys998X |
| 15 | Netherlands | c.5587–1G>C | splice defect | c.1078C>T | p.Arg360X |
| 16¶ | Netherlands | c.2991+1655A>G | p.Cys998X | c.3175dup | p.Ile1059fs |
| 17¶ | Netherlands | NT | NT | ||
| 18 | Netherlands | c.4661_4663del | p.Glu1544del | c.1645C>T | p.Arg549X |