Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

@article{Lehmann2002OcularDA,
  title={Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.},
  author={Ordan J Lehmann and Neil D. Ebenezer and Rosemary Ekong and Louise A Ocaka and Andrew J. Mungall and Scott Fraser and James I. McGill and Roger Hitchings and Peng T. Khaw and Jane C. Sowden and Sue Povey and Michael A Walter and Shomi Shanker Bhattacharya and Tim Jordan},
  journal={Investigative ophthalmology & visual science},
  year={2002},
  volume={43 6},
  pages={1843-9}
}
PURPOSE Mutations in the forkhead transcription factor gene FOXC1 on 6p25 cause a range of ocular developmental abnormalities, with associated glaucoma. However, FOXC1 mutations have not been found in all similarly affected pedigrees mapping to this interval. This study was undertaken to investigate the potential role of 6p25 rearrangements in causing such phenotypes. METHODS Two large families with autosomal dominant iris hypoplasia and early-onset glaucoma, 21 probands with Axenfeld-Rieger… CONTINUE READING