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AJ Churchill, M Ormestad, T Martinsson, P Carlsson; Peters' Anomaly is Associated with a Mutation in FOXE3 . Invest. Ophthalmol. Vis. Sci. 2002;43(13):2396.
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Purpose: Mutations in the forkhead transcription factor FOXE3 have been shown to cause dysgenetic lens in mice and anterior segment ocular dysgenesis and cataracts in humans (Semina et al 2001). The anterior segment abnormalities observed in the heterozygote mice closely resemble Peters’ anomaly. The purpose of this study was to look for sequence variations in the FOXE3 gene in a cohort of individuals with Peters’ anomaly. Methods: Fourteen individuals with Peters’ anomaly were identified and consented to genetic analysis. The FOXE3 gene was sequenced using previously described primers. Results: One individual (LAS) was found to have a heterozygous G≷T mutation, resulting in Arg90Leu substitution in the DNA binding domain of FOXE3. This sequence variation was not found in 100 normal control chromosomes. Conclusion: We have identified a missense mutation in the FOXE3 gene in an individual with Peters’ anomaly. The amino acid substitution occurs at the junction between helix 1 and 2 in the helix-turn-helix motif of the DNA binding domain in a highly conserved region: 71 out of 84 forkhead sequences have a positively charged amino acid (lysine or arginine) at this position. We propose that substitution with leucine might alter the 3-D structure of FOXE3 and thereby influence DNA binding.
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