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GDAP1-Related Charcot-Marie-Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant

Moez Ravanbod¹, Mahsa Mohammadi¹, Aida Ghasemi²

¹Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Journal of the Peripheral Nervous System : JPNS

|July 25, 2025

Summary

This summary is machine-generated.

Genetic analysis of 11 Iranian families identified novel GDAP1 gene variants linked to Charcot-Marie-Tooth disease. The study highlights the importance of intronic variants and suggests AD-CMT2K may be underdiagnosed due to milder symptoms.

Keywords:

Charcot–Marie‐Tooth GDAP1 gene intronic variant whole exome sequencing

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Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

The GDAP1 gene is essential for mitochondrial function and its mutations cause Charcot-Marie-Tooth (CMT) disease.
GDAP1 mutations can lead to autosomal recessive (AR) or dominant (AD) forms of CMT.
Understanding GDAP1 variants is crucial for diagnosing and managing CMT subtypes.

Purpose of the Study:

To investigate the clinical and genetic spectrum of GDAP1-related CMT in 11 Iranian families.
To identify novel GDAP1 variants and characterize their inheritance patterns.
To evaluate the phenotypic differences between AR-CMT2K and AD-CMT2K.

Main Methods:

Whole exome sequencing (WES) was performed on probands from a CMT cohort.
Co-segregation analysis was used to validate identified GDAP1 variants.
Clinical data from 16 patients across 11 families were analyzed.

Main Results:

Eight exonic variants in GDAP1 were identified, including two novel mutations.
A deep intronic variant (c.311-23A>G) was found in two families, potentially indicating a founder effect in the Iranian population.
The c.347T>G variant, previously found in Italy, was identified in three unrelated Iranian families, suggesting it's a hotspot mutation.

Conclusions:

The study expands the known genetic landscape of GDAP1-related CMT, emphasizing the significance of intronic variants.
The c.311-23A>G variant may be a founder mutation in the Iranian population.
Autosomal dominant CMT type 2K (AD-CMT2K) presents a milder phenotype, potentially leading to underdiagnosis compared to other GDAP1-related CMT subtypes.