This translocation completely disrupts the Dp472 muscle isoform of the DMD gene and the BCAS3 gene, which is an important cytoskeletal protein during embryogenesis, angiogenesis, and tumorigenesis, and has been recently identified to cause the autosomal, recessive Hengel–Maroofian–Schols syndrome [27]. Here, DMD is linked to Hengel-Maroofian-Schols syndrome.