Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Figure 1

Four-generation family with familial aniridia. Pedigree of a four-generation family in which 13 individuals were affected with familial aniridia (gray circles and gray squares). The plus sign (+) denotes individuals who underwent PAX6 sequencing and affected individuals with genetic confirmation of the novel frameshift mutation PAX6 p.Ile190SerfsTer17. The arrow indicates the proband. The star () indicates a family member with reported aniridia.