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 |
#denotes number of affected individuals), N/A: not applicable; **denotes novel mutation. Consang: consanguineous; Endogom: endogamous.