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 |
*: Previously genotyped by den Hollander et al. [7]; $§¶: sibships; NT: not tested on request of parents.