Genetic Analysis of PITX2 and FOXC1 in Rieger Syndrome Patients From Brazil

  title={Genetic Analysis of PITX2 and FOXC1 in Rieger Syndrome Patients From Brazil},
  author={A. Borges and Remo Susanna Junior and Jos{\'e} Carlos Eudes Carani and A. J. Betinjane and W. Alward and E. Stone and V. Sheffield and D. Nishimura},
  journal={Journal of Glaucoma},
  • A. Borges, Remo Susanna Junior, +5 authors D. Nishimura
  • Published 2002
  • Medicine
  • Journal of Glaucoma
  • PurposeAxenfeld-Rieger syndrome is a genetically heterogenous, autosomal dominant disorder that is characterized by anterior segment defects, glaucoma, and extraocular anomalies. This study examined the two genes known to cause Rieger syndrome, PITX2 and FOXC1, for mutations in five Brazilian families with Axenfeld-Rieger syndrome. MethodsFive families with a total of 23 persons affected by Axenfeld-Rieger syndrome were recruited for this study. A sequencing-based mutation screen was undertaken… CONTINUE READING
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