Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene

Figures

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  Figure 1. IGV screenshot of the whole genome sequencing data from the mother, proband, and affected half-brother. The arrows indicate where the duplicated region of chromosome 10 (left and right panels) read through the breakpoints on chromosome X. The yellow reads on chromosome 10 correspond to the pink read mates on chromosome X. Note that the duplicated region starting at 10:5,914,692 reads through X:32,008,035 and the duplicated region ending at 10:6,221,421 reads through X:32,008,026 indicating an inverted insertion.

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  Figure 2. The diagram above portrays the inverted insertion within the DMD gene (not to scale). The arrow directions indicate the 5′ to 3′ direction of the labelled gene or exon, with arrows pointing left indicating a gene on the minus strand, and arrows pointing right indicating a gene on the plus strand of the mutant X chromosome. Each gene is colored uniquely to improve readability. The vertical dashed lines indicate the breakpoints on the X chromosome.

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  Figure 3. Sashimi plots displaying the splicing of the DMD transcript in the proband’s muscle tissue (red) compared with the control muscle tissue (blue). Note that there are no reads spanning and reading through exons 44 and 45 in the proband’s data.

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  Figure 4. IGV screenshot of the reads appearing to span exons 44 and 45 of the DMD gene are displayed in split screen mode. Note that the reads that appear to span the junction map just three bases to exon 44, and there are zero reads that span the junction and read further through exon 44, indicating that these reads are false calls, which is why they were removed from the sashimi plots.