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. 2016 Jul 27;11(7):e0160016. doi: 10.1371/journal.pone.0160016

Fig 3. Family 3 from Mexico with ARS due to a heterozygous FOXC1 mutation.

Fig 3

(A) Pedigree and segregation of a novel missense mutation (c.454T>C; p.Trp152Arg) in the FOXC1 gene. (B). Systemic and ocular characteristics of patient II.1 (C). Slit lamp photograph of right eye with posterior embriotoxon, polycoria, corectopia and iris atrophy. (D). Systemic and ocular characteristics of patient II.2, Midface hypoplasia, thelecantus and broad nasal bridge. (E). Slit lamp photographs of the right eye with posterior embriotoxon, polycoria, corectopia and iris atrophy. (F). Sequence chromatograph of the FOXC1 variant. (G). Multiple sequence alignment of the region of the FOXC1 protein surrounding the novel p.Trp152Arg mutation in various species. The tryptophan residue (indicated with an arrow) is highly conserved among all species analyzed.