Table 1. Mutations in NMNAT1 detected in LCA patients.
| Patient | Variants | Segregation |
|---|---|---|
| 1 |
c.53A>G (p.N18S)/c.472G>C (p.D158H) |
n.d. |
| 2 |
c.769G>A (p.E257K)/c.253T>C (p.W85R) |
n.d. |
| 3.1 |
c.769G>A (p.E257K)/c.617A>G (p.H206A) |
yes |
| 3.2 |
c.769G>A (p.E257K)/c.617A>G (p.H206A) |
|
| 4 |
c.769G>A (p.E257K)/c.595G>T (p.E199*) |
yes |
| 5 |
c.769G>A (p.E257K)/c.731T>C (p.V244A) |
yes |
| 6 | c.769G>A (p.E257K)/c.619C>T (p.R207W) | yes |
LCA, Leber congenital amaurosis; n.d., not determined. Novel mutations are marked with bold font.