Fig. 3

a Upper. WGS data in Integrative Genome Viewer (IGV) (http://software.broadinstitute.org/software/igv) showing the heterozygous 1 bp deletion in KIAA0586 in the patient and his mother, but not in the father (red oval). Lower. Sanger sequencing on DNA from blood of the patient verifying 1 bp deletion in KIAA0586. R = A or G (as a consequence of the heterozygous deletion of G followed by A). b Upper. Screenshot from the IGV showing the 8.3 kb deletion in KIAA0586 detected in heterozygosity in the patient and his father, but not in the mother (red square) removing exons 8, 9 and 10 in KIAA0586 (blue boxes in the bottom). Note the decreased coverage in the deleted region in the patient and his father (red vertical arrows) and the reads with ends spanning the deletions (in red). Lower. Sanger sequencing of DNA from blood of the patient verified the 8.3 kb deletion in KIAA0586 and re-defined its breakpoints slightly to chr14 (GRCh37):g.58910301–58,918,610.