Dystrophin Exon 51

Exon 51 is one of 79 exons in the *DMD* gene, which encodes the protein dystrophin. Mutations resulting in loss of the normal reading frame at or near exon 51 cause Duchenne muscular dystrophy (DMD), a severe, progressive muscle-wasting disease. Exon skipping therapy—most notably with eteplirsen—uses synthetic antisense oligonucleotides to bind pre-mRNA and induce the exclusion (skipping) of exon 51 during mRNA processing. This restores the reading frame in selected patients, enabling production of a truncated but functional dystrophin protein, often resulting in a less severe Becker muscular dystrophy–like phenotype. Exon 51 itself is not a functional molecule or protein but represents a locus for gene-editing or RNA-splicing based interventions.

Other names

Exon 51 of the DMD geneDMD exon 51Dystrophin exon 51

Antisense-mediated exon skipping — antisense oligonucleotides (AONs) bind to pre-mRNA at exon 51 to alter splicing, excising exon 51, restoring the reading frame, and permitting the expression of truncated but functional dystrophin protein