Table 1.

Summary of six PAX6 mutations in patients with aniridia

Patient	Sex	Status	Exon	DNA outcome	Protein outcome	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

HD, homeodomain; PD, paired domain; PST, proline/serine/threonine rich domain.