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Novel Heterozygous Variant in a Child with Axonal Charcot-Marie-Tooth disease.

Sangeeta Gupta¹, Charushila Atul Rukadikar

¹Department of Physiology, All India Institute of Medical Sciences, Gorakhpur, Uttar Pradesh, India.

Annals of African Medicine

|May 5, 2026

Summary

This study reports a novel genetic variant in the GDAP1 gene associated with axonal Charcot-Marie-Tooth disease (CMT) in an Indian patient. Clinical and neurophysiological findings supported a probable CMT type 2K diagnosis, highlighting the importance of integrated analysis.

Keywords:

Axonal Charcot–Marie–Tooth disease axonale maladie de Charcot-Marie-Tooth (CMT)nerve conduction studies neurophysiological neurophysiologique variant variante études de conduction nerveuse

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Area of Science:

Neurology
Genetics
Molecular Biology

Background:

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies.
Axonal CMT (CMT 2) is characterized by primary dysfunction of the axon.

Purpose of the Study:

To report a case of axonal CMT in India with a novel GDAP1 gene variant.
To emphasize the diagnostic utility of integrating clinical, neurophysiological, and genetic data.

Main Methods:

Clinical examination and neurophysiological testing were performed.
Genetic sequencing identified a novel heterozygous variant in the GDAP1 gene.
Variant of uncertain significance classification was applied.

Main Results:

A 12-year-old male presented with severe, progressive distal lower limb weakness, consistent with axonal CMT.
Neurophysiology confirmed an axonal neuropathy.
A novel heterozygous missense variant in the GDAP1 gene was identified, classified as a variant of uncertain significance.

Conclusions:

The findings suggest a probable diagnosis of CMT type 2K, linked to the GDAP1 gene variant.
Clinical and electrophysiological data are crucial for interpreting genetic variants of uncertain significance in CMT.
This case underscores the importance of a comprehensive diagnostic approach in hereditary neuropathies.