Figure 4. Type 1C Intronic DMD Mutations Cause Premature RNA Transcription Termination.

(A) Read depth and differential intron coverage tracks across the DMD gene (chrX:33.27–31.11 Mb) with the intron 43 c.6290+3076A>G patient browser tracks shown in blue (upper) and the intron 61 c.9163+2510G>A patient in green (lower). The ‘Intronic Fold Change, Local’ track plots the log₂ ratio of patient versus an unaffected 9-year-old male from read counts summarized in 5 kb non-overlapping intronic bins and normalized to the total number of DMD intronic reads in each sample. (B) Globally normalized RNA-seq data for DMD for patients with the indicated DMD mutation, with the left panels plotting 5’ to 3’ the intron (red) and exon (blue) log₂ fold change differences from compared to values from an unaffected 9-year-old male. Right panels are box plots of log₂ fold changes for exons/introns grouped from 1 to 44, 44–60, and 62 to 79.