Figure 2. Four novel PITX2 mutations identified by DNA sequencing in four unrelated families with Axenfeld-Rieger syndrome

Pedigrees of four families with Axenfeld-Rieger syndrome are shown in the right column. Males and females are represented by squares and circles, respectively, and affected family members are darkened symbols. In the left column, partial DNA sequence chromatographs of PITX2 from affected individuals in each family are shown. In the center, partial DNA sequence chromatographs of PITX2 from corresponding unaffected family members are shown. The exact mutations in families were labeled next to each sequence according to the nomenclature.