PMC

Patient photograph. Photographic image of the eye of Patient 2.

Novel FOXE3 mutations. Fragments of DNA sequence trace chromatograms corresponding to the c.959G>C (p.X320SerextX73) mutation in Patient 1(A) and the c.571–579dup (p.Tyr191_Pro193dup) variant in Patient 2 (B). Mutation sites indicated with arrows.

Summary of FOXE3 mutations. A: Alignment of FOXE3 proteins showing region of p.Tyr191-Pro193 duplication. Please note two YAP amino acid motifs present in normal human and cow FOXE3 proteins and an additional insertion of this motif identified in Patient 2. B: Schematic drawing of FOXE3 protein with human mutations. Forkhead domain is shown in dark gray. Mutations resulting in recessive phenotypes are indicated with black arrows while mutations causing dominant disease- with blue arrows. The variant identified in Patient 2 is indicated with a gray arrowhead below the protein. Recurrent mutations are denoted with extended arrows. Positions of mutations identified in this study are shown with asterisks.