Figure 1

Axenfeld-Rieger pedigrees with intronic mutations in PITX2. A. Pedigree of family 0175 and sequence of genomic DNA of the patient showing an intronic mutation in the AG dinucleotide at the 3' ss splice junction of exon 4 (boxed). Proband is indicated with an arrow. B. Pedigree of family 689. Proband is indicated with an arrow. Individuals affected with an isolated ocular phenotype according to family history are indicated by half-shaded circles or boxes. Individuals affected with subclinical phenotypes who are likely mutation carriers are indicated with half-striped boxes. ARA, Axenfeld-Rieger anomaly. C. Pedigree of family 2 with clinical features. Proband is indicated with an arrow. Individuals affected with classic Axenfeld-Rieger syndrome (includes the triad of ocular, dental and umbilical anomalies) are indicated as shaded circles or boxes. ARS, Axenfeld-Rieger syndrome. The shaded triangle indicates a miscarriage of a child of unknown sex.