Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

@article{Islam2015FunctionalAO,
  title={Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.},
  author={Lily Islam and Daniel Kelberman and Laura Williamson and Nicola Lewis and Maria Bitner Glindzicz and Ken Kanwal Nischal and Jane C. Sowden},
  journal={Human mutation},
  year={2015},
  volume={36 3},
  pages={296-300}
}
Mutations in FOXE3 are associated with both recessive and dominant inheritance of severe anterior ocular malformations and glaucoma. However, functional analyses of putative pathogenic mutations have not been performed. We tested the hypothesis that variations in FOXE3 activity underlie the different modes of inheritance and disease phenotype. In band shift assays, three recessive mutants showed loss-of-function, one retained DNA binding activity, whereas two dominant mutants showed altered… CONTINUE READING