Identification of Novel Variants in <i>LTBP2</i> and <i>PXDN</i> Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma - Fig 2

<p>(a) Sanger sequencing chromatograms for the carrier III:1 and affected individual IV:2 homozygous for the mutation (b) Family pedigree and segregation of a novel frameshift mutation (c.4031_4032insA; p.Asp1345Glyfs*6) in the <i>LTBP2</i> gene in a PCG family.</p

Family 1 from Pakistan with aniridia due to a <i>de novo</i> heterozygous <i>PAX6</i> mutation.

<p>(A) Pedigree and segregation of a novel mutation (c.225C>A; p.Tyr75*) in the <i>PAX6</i> 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 <i>PAX6</i>.</p

Family 3 from Mexico with ARS due to a heterozygous <i>FOXC1</i> mutation.

<p>(A) Pedigree and segregation of a novel missense mutation (c.454T>C; p.Trp152Arg) in the <i>FOXC1</i> 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 <i>FOXC1</i> 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.</p

Family 2 from Pakistan with aniridia due to a heterozygous <i>PAX6</i> mutation.

<p>(a) Pedigree and segregation of a previously described mutation (c.649C>T; p.Arg217*) in the PAX6 gene. (b). DNA sequence chromatogram of <i>PAX6</i> for the variant c.649C>T.</p

Family 4 from Pakistan with ARS and congenital glaucoma due to a homozygous <i>FOXC1</i> mutation.

<p>(a) Pedigree and segregation of a novel deletion (c.92_100del; p.Ala31_Ala33del) in the <i>FOXC1</i> gene. (b). DNA sequence chromatogram of <i>FOXC1</i> demonstrating loss of codons Ala31-33.</p