Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.

@article{Alward1998AutosomalDI,
  title={Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.},
  author={Wallace L. M. Alward and Elena V Semina and J. W. Kalenak and Elise Heon and Bhavna P Sheth and Edwin M. Stone and Jeffrey C Murray},
  journal={American journal of ophthalmology},
  year={1998},
  volume={125 1},
  pages={98-100}
}
PURPOSE To determine whether autosomal dominant iris hypoplasia is caused by mutations in the newly described gene for Rieger syndrome (RIEG/PITX2). METHOD Mutation screening and sequence analysis was performed in a single family. RESULTS A novel mutation in the RIEG/PITX2 gene was found in all affected but no unaffected individuals. This mutation would be expected to result in an arginine to tryptophan amino acid change in the homeodomain of solurshin, the RIEG/ITX2 gene product… CONTINUE READING

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