Table 2 of
Zhang, Mol Vis 2011; 17:2139-2147. Table 2 of
Zhang, Mol Vis 2011; 17:2139-2147.
Table 2. Clinical data and PAX6 mutations in the 16 probands.
| ID | Age (years) | Gender | Inheritance | Visual acuity | Clinical manifestation# | Mutations detected in PAX6 | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Cornea | Iris | Lens | Exon | Sequence variations | Effect | |||||
| QT183 | 8 | M | sporadic | 0.1; 0.1 | normal | complete aniridia | inferior opacity; upward dislocation | E5 | c.120C>A | C40X |
| QT314 | 3/12 | F | sporadic | NA | normal | complete aniridia | transparent | E9 | c.718C>T | R240X |
| QT322 | 12 | M | AD | 0.1; 0.1 | normal | subtotal aniridia | punctate opacity | E5 | c.65_94del30.c.99_105dup7 | P22LfsX25 |
| QT346 | 3 | M | sporadic | NA | inferior leucoma | complete aniridia | transparent | E12 | c.1183G>A | G395R |
| QT350 | 4 | M | sporadic | 0.1; 0.1 | normal | complete aniridia | transparent | E9–14 | E9–14 del. | One copy deletion |
| QT374 | 7 | M | sporadic | 0.1; 0.1 | normal | complete aniridia | transparent | E10 | c.949C>T | R317X |
| QT462 | 4 | F | sporadic | NA | normal | complete aniridia | transparent | E8–14 | E8–14 del. | One copy deletion |
| QT464 | 19 | M | AD | 0.2; 0.2 | normal | complete aniridia | punctate opacity | E5 | c.101_102insA | p.H34QfsX21 |
| QT467 | 3 | F | AD | NA | normal | subtotal aniridia | punctate opacity | E1–14 | E1–14 del. | One copy deletion |
| QT468 | 8 | M | AD | 0.2; 0.2 | normal | circumpupillary aplasia | punctate opacity | E6 | c.238_239dupGCGA | T80Sfsx12 |
| QT517 | 2/12 | M | sporadic | NA | normal | complete aniridia | transparent | E6 | c.177delG | R59SfsX19 |
| QT522 | 18 | F | AD | 0.1; 0.1 | microcornea | complete aniridia | punctate opacity | E4 | c.1A>G | Initiation codon abolished |
| QT572 | 17 | F | AD | 0.2; 0.3 | normal | complete aniridia | punctate opacity | E12 | c.1033–42_1033–26del17insG | Splice change |
| QT602 | 14 | M | AD | 0.1; 0.1 | normal | circumpupillary aplasia | transparent | E12 | c.1062C>A | Y354X |
| QT609 | 5 | F | AD | 0.1; 0.2 | normal | complete aniridia | transparent | E13 | c.1268A>T | X423LeuextX*15 |
| QT634 | 7 | F | AD | 0.1; 0.1 | normal | full iris* | punctate opacity | E13 | c.1268A>T | X423LeuextX*15 |