Table 2 of Chien, Mol Vis 2009; 15:2139-2145. Table 2 of Chien, Mol Vis 2009; 15:2139-2145.
Table 2. Genotypes, eye anomalies, and extraocular manifestations in patients with a PAX6 mutation.
No |
Inheritance |
Nucleotide change* |
Predicted protein change* |
Location |
Previously reported |
Eye anomalies |
Extraocular manifestations |
|---|---|---|---|---|---|---|---|
| 1 | sporadic | c.317T>A | p.L106X | Exon 6 | no | aniridia, foveal hypoplasia, pendular nystagmus | |
| 2 | Familial | c.949C>T | p.R317X | Exon 11 | PAX6 database** | aniridia, cataract, nystagmus | congenital hip dislocation, developmental delay |
| 3 | sporadic | c.331delG | p.V111SfsX13 | Exon 6 | PAX6 database** | aniridia | developmental delay |
| 4 | sporadic | c.142–1G>T | Abnormal splicing | Exon 5b | no | aniridia, nystagmus | mild developmental delay |
| 5 | sporadic | c.656del10 | p.Q219QfsX20 | Exon 8 | no | aniridia, horizontal pendular nystagmus, foveal hypoplasia | developmental delay |