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