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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