Table 1 of Khan, Mol Vis 2011; 17:708-714. Table 1 of Khan, Mol Vis 2011; 17:708-714.
Table 1. Summary of the results of molecular analysis of patients with classic aniridia.
| ID | Inbred? | Age | Sex | # | PAX6 mutation | Gene analysis | Copy number variation | Comment |
|---|---|---|---|---|---|---|---|---|
| 1 | Consang | 6 | F | 9 | p.Arg240X (c.1195C>T) | N/A | N/A | Family from reference [14] |
| 2 | No | 10 | F | 4 | **p.E185EfsX14 (c.555_556delGA) | N/A | N/A | |
| 3 | Consang | 9 | F | 3 | p.Pro39ArgfsX14 (c.112del1) | N/A | N/A | |
| 4 | Consang | 8 | F | 4 | p.Asn273IlefsX91 (c.delA1294) | N/A | N/A | Family from reference [14] |
| 5 | Consang | 25 | M | 1 | p.Arg240X (c.718C>T) | N/A | N/A | |
| 6 | Consang | 9 | M | 1 | ** p.Gln350X (c.1048C>T) | N/A | N/A | developed juvenile glaucoma |
| 7 | Consang | 8 | F | 1 | none | no mutation found | none found | no keratopathy |
| 8 | No | 7 | M | 1 | p.Ala37ProfsX16 (c.109del1) | N/A | N/A | accommodative esotropia |
| 9 | Consang | 7 | F | 1 | none | homozygous p.Pro297Ser FOXC1 (c.889C>Tr) | chr11q24.2:125,001,547-125,215,177 (rs114259885;rs112291840) | |
| 10 | Consang | 3 | M | 1 | p.Ser167X (c.500C>A) | N/A | N/A | optic nerve hypoplasia |
| 11 | Consang | 1 | F | 1 | PAX6 gene deletion (see copy number variation column) | N/A | chr11:30,877,006-32,440,841 (1,563,836 bp) | |
| 12 | Endogom | 4/12 | F | 1 | PAX6 and WT1 gene deletion (see copy number variation column) | N/A | chr11:27,206,264-42,280,976 (15,074,713 bp) | Non-consanguineous but endogamous; no keratopathy |