Figure 1. Novel mutations of the FOXC1, PITX2, and CPAMD8 genes and patients’ ocular phenotypes. A–C: Pedigrees, sequence chromatograms of the nonsense mutation (FOXC1 c.274C>T, p.(Q92*), transcript ID NM_001453) of AN1, missense mutation (PITX2 c.329C>G, p.(P110R), transcript ID NM_153426) of AN9 and AN10 (daughter and mother, respectively), and missense mutation (CPAMD8 c.2405G>A, p.(C802Y), transcript ID NM_015692) of AN11 and AN12 (twin brothers). The exact positions of the mutations in the chromatograms are indicated by the arrows. D: Patients’ ocular phenotypes.