PMC3654851_01
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.
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The proband (Figure 1A) in this Korean family was a 12-year-old boy who presented with decreased visual acuity and intraocular pressure (IOP) uncontrolled by antiglaucoma medications in the right eye. This family had four affected members: the proband, his father, and his two younger sisters (Figure 1A).