Table I.
Patients with a single CEP290 mutated allele who were included in the study.
| Patient | Allele 1 | Reference | |
|---|---|---|---|
|
| |||
| DNA Alteration | Effect | ||
| JSRD/MKS* | |||
| COR001 | c.5489_5493delA | p.A1832PfsX1 | [Brancati et al., 2007] |
| COR002a | c.6870delT | p.Q2291KfsX | [Brancati et al., 2007] |
| MTI125 | c.4393C>T | p.R1465X | [Brancati et al., 2007] |
| MTI286 | c.4393C>T | p.R1465X | [Brancati et al., 2007] |
| 05/158* | c.1984C>T | p.Q662X | [Baala et al., 2007] |
|
| |||
| Isolated LCA | |||
| 848,4 | c.4723A>T | p.L1575X | cousin of 848 [Perrault et al., 2007] |
| 196 | c.2991+1655A>G | p.C998X | [Perrault et al., 2007] |
| 317 | c.2991+1655A>G | p.C998X | [Perrault et al., 2007] |
| 446 | c.3934A>T | p.R1312X | unpublished |