Dystrophin (DMD) gene duplicated exon 20 (DMD dup20)

The DMD gene duplicated exon 20 genomic DNA sequence is a specific pathogenic mutation within the human dystrophin (DMD) gene, which is the largest known gene and is essential for maintaining the structural integrity of muscle cell membranes (UniProt P11532). This duplication typically results in a frameshift mutation that leads to a premature stop codon, preventing the synthesis of functional dystrophin protein and causing Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting disease (NIH: Genetic and Rare Diseases Information Center). As a therapeutic target, this genomic sequence is addressed using precision medicine strategies such as antisense oligonucleotides (ASOs) and CRISPR/Cas9 gene editing (PMID: 21336784). These interventions are designed to induce the skipping of one of the duplicated exons during pre-mRNA splicing or to remove the duplication from the genome entirely. By restoring the original open reading frame, these therapies enable the production of a functional dystrophin protein, which can significantly mitigate the progressive muscle wasting associated with the disease (PMID: 30245151). This target is particularly notable because, unlike deletions, skipping a duplicated exon can potentially restore the wild-type protein sequence rather than a truncated version.

Other names

DMD duplication exon 20Dystrophin exon 20 duplicationDMD exon 20 genomic duplication

Restoration of the reading frame via exon skipping or genomic excision to allow for functional dystrophin protein synthesis.