INC: Investigating the Correlation Between Disease Severity and Genetic Variants in Charcot-Marie-Tooth Disease Type 1E

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Rare Research Report

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Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

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INC: Investigating the Correlation Between Disease Severity and Genetic Variants in Charcot-Marie-Tooth Disease Type 1E

Rare Research Report

2 minutes

2 months ago

INC: Investigating the Correlation Between Disease Severity and Genetic Variants in Charcot-Marie-Tooth Disease Type 1E

New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on June 9, 2025, titled "Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22variants."

Read the paper here.

Learn more about INC.

Transcript:

New research from the Inherited Neuropathy Consortium (INC), a research group of the Rare Diseases Clinical Research Network.

Investigating the Correlation Between Disease Severity and Genetic Variants in Charcot-Marie-Tooth Disease Type 1E.

This summary is based on a paper published in the journal Brain on June 9, 2025. Charcot-Marie-Tooth disease type 1E (CMT1E) is a neuromuscular disorder that affects the peripheral nerves of the feet and hands, leading to neuropathy. Since CMT1E is caused by different kinds of variants in the PMP22 gene, patients can experience a spectrum of mild to severe symptoms. Not much is known about the natural history and symptom progression among these individuals.

In this study, researchers investigated the correlation between disease severity and genetic variants in CMT1E. First, the team evaluated patients with CMT1E during initial and follow-up visits at sites within the Inherited Neuropathy Consortium, documenting clinical characteristics and evaluating changes over time. Next, researchers correlated PMP22 variants with disease severity.Results revealed 24 likely disease-causing PMP22 variants among 50 individuals.

The team found that reduced expression of PMP22 at the cell surface—and the location of missense variants within the transmembrane domain—correlated with disease severity. In addition, pathogenic PMP22 variants located within the transmembrane regions were often found to cause moderate to severe disease beginning in early childhood, impairing trafficking to the plasma membrane.