Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Figure 2

Results of genetic analysis of the proband. (a) Partial karyotype showing the reciprocal translocation between chr3 and chr20. The schematic representation illustrates parts of der3 and der20 originating from chr3 (red) and chr20 (blue). (b) The pedigree of the family. Images of gel electrophoresis of PCR products amplified across the breakpoint junctions on (c) der3 (850 bp) and (e) der20 (947 bp). NTC: no template control. Sanger sequencing of PCR product showing the details of the junctions including the 1 bp microhomologies at (d) chromosome 3 and (f) chromosome 20. The coordinates (hg38) mark nucleotides participating in the microhomologies.

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