Identification of Novel Variants in <i>LTBP2</i> and <i>PXDN</i> Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma - Fig 3

(a) DNA chromatogram of the relevant PXDN fragment for the carrier and homozygous variant are shown (b). Family pedigree and segregation of a novel missense mutation (c.3496G>A; p.Gly1166Arg) in the PXDN gene. (c). Multiple sequence alignment of the region of the PXDN protein surrounding the novel Gly1166Arg mutation in various species. The glycine residue (indicated with an arrow) is highly conserved among all species analyzed.</p

DNA13-07610.hcdiffs

DNA13-07610.hcdiff

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