Figure 1. Pedigree and sequence analysis of the forkhead box CI (FOXC1) gene in a family with Axenfeld-Rieger syndrome. A: The proband (II:1) is indicated with an arrow. The filled symbols represent affected individuals. B: Direct sequencing analysis of the FOXC1 gene showed overlapping peaks at nucleotide position 317 due to a heterozygous 1-bp deletion of alanine (c.317delA) in the
proband (II:1), his father (I:1), and two younger sisters (II:2 and II:3). C: The FOXC1 domain structure and predicted protein due to a novel mutation (c.317delA; p.Gln106Argfs*75) identified in this
study are illustrated. The black rectangle represents the forkhead domain, and the slashed box indicates those areas of the
mutant protein that are translated differently from the normal FOXC1 protein.