Autoomal dominant iri hypoplaia i caued by a mutation in the rieger yndrome (rieg/pitx2) gene

Purpoe: To determine whether autoomal dominant iri hypoplaia i caued by mutation in the newly decribed gene for Rieger yndrome (RIEG/ PITX2). Method: Mutation creening and equence analyi wa performed in a ingle family. Reult: A novel mutation in the RIEG/PITX2 gene wa found in all affected but no unaffected individual. Thi mutation would be expected to reult in an arginine to tryptophan amino acid change in the homeodomain of olurhin, the RIEG/PITX2 gene product. Concluion: Autoomal dominant iri hypoplaia i caued by a defect in the ame gene that i defective in many cae of Rieger yndrome.