Exon skipping is a potential treatment approach for correcting and restoring production of dystrophin.

For specific genetic mutations, it allows the body to make a shorter, usable dystrophin. Exon skipping is not a cure for Duchenne, but it may make the effects less severe. No single drug will help everyone with Duchenne. The most common mutation amenable to exon skipping is exon 51, which only affects 13% of all patients. But doctors believe that 60-80% of Duchenne patients may eventually benefit from exon skipping.

Duchenne Population Amenable to Exon Skipping

Data suggest up to 80% of patients have genotypes amenable to exon skipping.

  • may not be amenable to exon skipping - ~20%
  • other exon skips - ~30%
  • Exon 51 - 13%
  • Exon 53 - 8%
  • Exon 45 - 8%
  • Exon 44 - 6%
  • Exon 50 - 4%
  • Exon 52 - 4%
  • Exon 43 - 4%
  • Exon 55 - 2%
  • Exon 8 - 2%

This document contains theoretical and documented, mutations potentially amenable to exon skipping. Not all deletions have been studied and this list may not be complete.

This is an educational resource to provide information about exon skipping only. Please contact your child’s physician or genetic counselor for more information.

Duchenne population amenable to exon skipping was determined through the following source:

Fletcher, S., et. al. Dystrophin Isoform Induction In Vivo by Antisense-mediated Alternative Splicing. The American Society of Gene & Cell Therapy. 2010;18(6):1218-1223.

Annemieke Aartsma-Rus, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy. Hum Mutat. 2009 Mar;30 (3):293-9.