A mutation in the RIEG1 gene associated with Peters' anomaly.

@article{Doward1999AMI,
  title={A mutation in the RIEG1 gene associated with Peters' anomaly.},
  author={W A Doward and Rahat Perveen and Ian Lloyd and Alex Ridgway and Louise Wilson and Graeme C. M. Black},
  journal={Journal of medical genetics},
  year={1999},
  volume={36 2},
  pages={152-5}
}
Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3' splice site. Peters' anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly… CONTINUE READING