case_images: PMC4701771_01
case_images: Segregation of a PRDM5 missense variant in a family with Axenfeld-Rieger syndrome. The c.877A>G; p.Lys293Glu variant is indicated with an M, and the wild-type allele with a +. All affected individuals carry the variant heterozygously, while the unaffected individuals do not carry the variant. The proband is indicated with an arrow
case_images: 10048_2015_462_Fig1_HTML.jpg
case_images: PMC4701771_01_10048_2015_462_Fig1_HTML.jpg
case_images: Fig1
case_images: The proband (VI:3) has an affected father (V:2) and aunt (V:1), and one affected sister (VI:5) (Fig. 1). A novel, heterozygous missense variant (c.877A>G; p.Lys293Glu) in the PRDM5 gene was found to segregate with the disease in the family (Fig. 1).
case_images: Ocular and systemic characteristics of the family with Axenfeld-Rieger syndrome. a Eyes of the proband (VI:3) presented bilateral buphthalmos, corectopia, polycoria, corneal edema, posterior embryotoxon, posterior subcapsular cataract, vascularized corneal opacity, and iris atropy patches in the left eye. b Both eyes of individual (VI:5) showed megalocornea and posterior embryotoxon. The right eye shows polycoria, and the left eye shows corectopia. c Facial dysmorphism in individuals VI:3 included flattening of the mid-face, a broad forehead, a broad nasal bridge, a thin upper lip with a long philtrum, a protruding lower lip, and a receding chin; d microdontia; e micrognathia; f redundant periumbilical skin
case_images: 10048_2015_462_Fig2_HTML.jpg
case_images: PMC4701771_01_10048_2015_462_Fig2_HTML.jpg
case_images: Fig2
case_images: Facial dysmorphism in individuals VI:3 and VI:5 included flattening of the mid-face, a broad forehead, a broad nasal bridge, a thin upper lip with a long philtrum, a protruding lower lip and a receding chin (Fig. 2a-f).
case_images: PRDM5 protein sequence alignment (amino acids 283-303) across species, indicating evolutionary conservation of lysine at position 293 in human PRDM5
case_images: 10048_2015_462_Fig3_HTML.jpg
case_images: PMC4701771_01_10048_2015_462_Fig3_HTML.jpg
case_images: Fig3
case_images: The lysine residue affected by the variant (c.877A>G; p.Lys293Glu) is conserved in all species analyzed (Fig. 3).
case_images: Secondary structure of the PRDM5 protein. The Lys residue in the linker region between two Zn-finger domains is represented with the green color, and the mutant Glu variant is indicated with a red color
case_images: 10048_2015_462_Fig4_HTML.jpg
case_images: PMC4701771_01_10048_2015_462_Fig4_HTML.jpg
case_images: Fig4
case_images: Hope project analysis predicted that the lysine residue at position Lys293 is located in the linker between two Zn-finger domains (Fig. 4).