Fig. 3

Genetic analysis of the DMD gene in Pedigree 3. A shows the family pedigree and DMD gene analysis results detected by MLPA. The proband (II1) had hemizygous duplication variants of exon 1 of the Dp427c transcript in the DMD gene, and his mother was heterozygous. B shows critical breakpoints from screenshots of the integrative genomics viewer (IGV) based on LRS data analysis, and corresponding verification results by Sanger sequencing. From top to bottom are the joints of fragments a and c, fragments c and e, fragments e and a (indicated in C). The red single arrows indicate the breakpoints. C Schematic diagram shows the locations of breakpoints and architectural features of the duplication variant. The red dashed lines indicate the breakpoints involved in recombination, and the coordinates of the breakpoints in the genome are shown next to them