Fig 1.
Family 1 from Pakistan with aniridia due to a de novo heterozygous PAX6 mutation.
(A) Pedigree and segregation of a novel mutation (c.225C>A; p.Tyr75*) in the PAX6 gene. (B). Clinical presentation of the affected proband (II:3), corneal neovascularization and opacification in the right and left eyes. (C). DNA sequence chromatogram of PAX6.
Fig 2.
Family 2 from Pakistan with aniridia due to a heterozygous PAX6 mutation.
(a) Pedigree and segregation of a previously described mutation (c.649C>T; p.Arg217*) in the PAX6 gene. (b). DNA sequence chromatogram of PAX6 for the variant c.649C>T.
Fig 3.
Family 3 from Mexico with ARS due to a heterozygous FOXC1 mutation.
(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.
Fig 4.
Family 4 from Pakistan with ARS and congenital glaucoma due to a homozygous FOXC1 mutation.
(a) Pedigree and segregation of a novel deletion (c.92_100del; p.Ala31_Ala33del) in the FOXC1 gene. (b). DNA sequence chromatogram of FOXC1 demonstrating loss of codons Ala31-33.