qPCR gene dosage of the 15q24-15q24.1 region in family AU008. Genes within the deleted interval and the flanking regions were targeted with qPCR probes in patient AU008 and both parents. The names of the genes are followed by the number of the UPL probe used. Data are means ± SEM. A gene dosage ratio of 1 indicates the presence of two alleles and is considered normal; values < 1 indicate a deletion. The distal breakpoint is located in the LMANL1 gene, between intron 1 (probe 23) and exon 14 (probe 77).