Summary of six PAX6 mutations in patients with aniridia
| Patient | Sex | Status | Exon | DNA outcome | Protein outcome | Domain |
|---|---|---|---|---|---|---|
| HD, homeodomain; PD, paired domain; PST, proline/serine/threonine rich domain. | ||||||
| DU | Male | Familial | 8 | 1023C→T | Q221X | HD |
| NU | Female | Familial | 8 | 1023C→T | Q221X | HD |
| IU | Female | Familial | 8 | 1023C→T | Q221X | HD |
| LG | Male | Sporadic | 10 | 1252C→T | Q297X | PST |
| DL | Male | Sporadic | Intron 5 | IVS5+2T→C | Unknown | PD |