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Table 1 Human disorders associated with PITX3 mutations

From: Functional analysis of human mutations in homeodomain transcription factor PITX3

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