Table 1.

Human disorders associated with PITX3 mutations

PITX3 genotype	Protein defect	Human ocular phenotype	# independent reports	Reference
WT/G38A	S13N (N-term)	congenital total cataract with glaucoma	1	19
WT/650delG	G217fs (C-term)	congenital posterior polar cataract	2	21; 24
650delG/650delG	G217fs (C-term)	microphthalmia	1	24
WT/657ins17	G219fs (C-term)	congenital posterior polar cataract	4	21–23; 25
		congenital posterior polar cataract with anterior segment dysgenesis	2	21
		congenital cortical cataract with anterior segment dysgenesis	1	19