Monogenic

One gene, one cause

A monogenic disease is caused by a pathogenic variant in a single gene. Charcot-Marie-Tooth disease (CMT) is monogenic: each subtype traces to one causative gene, even though many different genes cause CMT across the full set of subtypes. Monogenic, or single-gene, inheritance is what makes it possible to name one gene as the cause of a given subtype.

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Jean-Martin Charcot lecturing at the Salpêtrière while comparing anatomical illustrations of a cavovarus Charcot-Marie-Tooth (CMT) foot and a Charcot neuroarthropathy foot, highlighting two different conditions that share the Charcot name.


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Illustrated graphic showing large ‘404’ numerals with people interacting with data screens and servers, alongside text reading ‘CMT Genetic Testing Error 404: Gene Not Found’ and ‘Examining Why Less Than Half of All Who Have Charcot-Marie-Tooth Disease Are Not Able to Obtain Genetic Confirmation of Their Disease.


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