Figure 1

DMD deletions and gene expression in KIT/PDGFRA mutant IST samples. (A) Signal Log² Ratio of copy number data from SNP 6.0 arrays on the X chromosome, showing focal losses and deletion of 1 entire chromosome arm. (B) Graphical representation of sizes of the genomic losses of DMD gene, located on the reverse X chromosome strand. (C) DMD expression showed as average number of mapped reads from RNA sequencing of the samples that carry DMD deletions. All cases retain the expression of the short isoform starting from exon 63.