Figure 2. Characterization of the deletion breakpoint in patient 2557. A: Schematic drawing of RPGR exons ORF15, 15a, and 15b. Primers used for long-range PCR are marked by arrows and flank the 6419 bp deletion. B: Long-range PCR for patient 2557 (male) and a control sample (male). The difference of the PCR products represents the 6.4 kb deletion in patient 2557. C: The sequence profile shows the breakpoint of the deletion in patient 2557. The open reading frame of exon ORF15 was not affected by the deletion. In total, 6419 bp were deleted, starting 27 bp after the stop codon in ORF15 and ending 72 bp after exon 15a. Note that exon 15a is downstream of 15b. Thus, the deletion affected both exons 15a and 15b of RPGR.