Figure 4. RKK_665 carries a deletion mutation. A: Integrative Genomics Viewer (IGV) view of the sequenced genome sequencing (GS) reads the location of the deletion in the RKK_665 patient. The bottom shows the location of exon 21 and exon 22 in RPGRIP1. The gray thick arrows correspond to the expected paired end reads. The thick red arrows are mapped reads that have aligned abnormally and represent a deletion. B: Schematic plot explains the 2,890-bp deletion in the RKK_665 patient. The primers for Sanger sequencing of the deletion are listed in the top (RKK665_F: left primer, _R: right primer). C: Junction PCR was conducted (with the primers listed in B), and the PCR product was Sanger sequenced. The top is the BLAT alignment of the Sanger sequencing product against the hg19 human genome, which confirmed the 2,890-bp deletion, the breakpoints (chr14:21809977 and chr14:21812868), and the absence of exon 21, as shown in the UCSC Genome Browser. The bottom shows the Sanger sequencing data identifying the exact breakpoints (black arrowhead).