Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.

Mutational screening and sequence analysis of the PITX2 gene was performed in four families previously diagnosed with Rieger syndrome. The results of this analysis identified four novel mutations within the coding sequence of PITX2. These mutations were not identified in the sequence of 50 control individuals. Two mutations were found in the homeobox and would be expected to result in nonconservative amino acid changes within the second and third helixes. The remaining two mutations were found in the region downstream of the homeobox and are also predicted to result in missense mutations. In conclusion, mutations within the homeobox sequence and the adjacent coding sequence of PITX2 lead to various Rieger syndrome phenotypes characterized by a high incidence of glaucoma. Copyright 2002 S. Karger AG, Basel