Exon deletion tool

The landscape of Duchenne is changing, with new disease management strategies available and under development. Many of these are based on specific genetic mutations. Knowing your child's mutation can affect decisions on which strategies might be appropriate for your child. Learn more about genetic mutations in Duchenne.

The dystrophin gene is the largest gene in the body, made up of exons (sections of genes) that are linked together to form the instructions for making dystrophin — a protein muscles need to work properly. One of the most common mutations in people with Duchenne is an exon deletion, when one or more exons are missing.

exon map of the dystrophin gene

Exon deletion tool

If your child has already had a genetic test and the mutation is an exon deletion, this educational tool can help you prepare for a discussion with your child's doctor or genetic counselor. If you don't know your child's exon deletion, learn more about genetic testing.

Instructions: Enter the first and last number correlating to your child's deletion in the fields below. If your child has a single deletion, enter the same number in both fields. Example: 12-12, 12-14, 12-75.


enter
first exon
deleted

to

enter
last exon
deleted


Based on the information you entered, your child's mutation may be amenable to exon [insert number] skipping. Talk to your child's doctor to learn more about potential options.

  • There may also be other disease management options and/or clinical trials available for your child. Please visit ClinicalTrials.gov to learn about clinical trials or PPMD's online Clinical Trial Resource Center to learn about the latest research in Duchenne.

Based on the information you entered, your child's mutation may be amenable to exon [insert number] skipping. Talk to your child's doctor to learn more about potential options.

  • There may also be other disease management options and/or clinical trials available for your child. Please visit ClinicalTrials.gov to learn about clinical trials or PPMD's online Clinical Trial Resource Center to learn about the latest research in Duchenne.

Based on the information you entered, your child's mutation may be amenable to exon [insert number] skipping. Talk to your child's doctor to learn more about potential options.

  • There may also be other disease management options and/or clinical trials available for your child. Please visit ClinicalTrials.gov to learn about clinical trials or PPMD's online Clinical Trial Resource Center to learn about the latest research in Duchenne.

Based on the information you entered, the range is not supported by this tool. Please try again, or speak with your child’s doctor or genetic counselor for more information.

This educational tool is designed to provide information about exon deletions only, which is not meant to be used as the basis for diagnosis or deciding upon any course of treatment for Duchenne. This tool does not include point mutations or other small mutations, duplications, or multiple deletion ranges (e.g., 14-19 AND 37-50). Be sure to speak with your child's doctor or genetic counselor about your child's genetic testing results.

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