Episode 1: It's All In The Genes

Original Publish Date

January 20, 2021

Episode Description

Charcot Marie Tooth Disease is as confusing as can be. How CMT can be inherited, how CMT can be passed on, and what makes CMT inheritable in the first place is part of what makes CMT so confusing. Throw in the confusion inherent in the CMT genetic test results report, and everything becomes maddening for the CMTer. It’s All in The Genes takes a deep dive into the abyss and clears up all the muck by removing the inheritance and genetic testing confusion in an engaging and insightful narrative.

Episode 1: It's All In The Genes

Show Notes

In this episode, we discuss the inheritance patterns, that is, the four ways CMT can be inherited or passed on. We discussed the three mutation types that are associated with CMT, we discuss a gene’s home address on a chromosome. We discuss narratives that are in CMT genetic test reports, what a VUS finding could mean, and what no finding could mean.

Sources

Inheritance Patterns and Mutation Types:
https://www.ncbi.nlm.nih.gov/books/NBK115561/

What is a Chromosome? https://www.genome.gov/genetics-glossary/Chromosome

What is an Autosome? https://www.genome.gov/genetics-glossary/Autosome

A Gene’s Home Address:
https://medlineplus.gov/genetics/understanding/howgeneswork/genelocation/

CMT4J: https://www.omim.org/entry/611228?search=CMT4J&highlight=cmt4j#molecularGenetics

CMT2R: https://www.omim.org/entry/615490?search=CMT2R&highlight=cmt2r#molecularGenetics

CMT1A: https://www.omim.org/entry/118220?search=CMT1A&highlight=cmt1a#molecularGenetics

Additional Mentions

MDA Exchange CMT Symposium 2020 Dr. Shy Presentation:
https://www.mda.org/care/mda-engage/disease-symposia/cmt-symposium-2020

National Society of Genetic Counselors website: https://www.nsgc.org/
Invitae Free Testing Program that includes 72 genes known to have CMT causing mutations: https://www.invitae.com/en/alnylam-act-hattr-amyloidosis/#panels

The Panel that the above FREE program from Invitae includes: https://www.invitae.com/en/physician/tests/03200/

Additional CMT Resources

Find Your Nearest Charcot-Marie-Tooth Association Centers of Excellence CMT Clinic:
https://www.cmtausa.org/living-with-cmt/find-help/cmta-centers-of-excellence/

The CMTA’s Ask the Expert Desk:
https://www.cmtausa.org/living-with-cmt/find-help/ask-the-expert/

The Inherited Neuropathies Consortium:
https://www.rarediseasesnetwork.org/cms/inc/