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Final Program


Final Congress Guide

Biomedical Sciences

100 Section - Presence of the GDAP1 mutation as a cause of Charcot-Marie-Tooth axonal type 2K disease in the Colombian Caribbean

Wednesday, May 20, 2026
6:00 PM - 7:30 PM PT
Objectives : The main genes responsible for Charcot-Marie-Tooth type 2 (CMT2) polyneuropathies (axonal) are usually MFN2, GJB, MPZ, GDAP1, HSPB1, and HSPB8. Pathogenic and probably pathogenic variants in the heterozygous state of the GDAP1 gene have been associated with CMT2 type 2K with autosomal dominant and recessive inheritance patterns. In Latin America, we have limited data indicating the presence of mutations in this gene related to CMT2 type 2K. The objective is to evaluate the presence of the GDAP1 mutation as a cause of CMT2 type 2K.

Design: We conducted a targeted search in patients with suspected hereditary polyneuropathy in the database of the MyoCare institution in Sincelejo, Colombia, who had exome or NGS results with a GDAP1 gene mutation, from February 2024 to February 2025, finding as a result the presence of 4 records with a GDAP1 gene mutation and a clinical and electrophysiological diagnosis of axonal Charcot-Marie-Tooth disease type 2K.

Results: The same pathogenic variant was found in the heterozygous state in all four patients in the GDPA1 gene on chromosome 8 (8q21.11) c.358C >T p.Arg120Trp. Of the four patients, three (75%) were women and one (25%) was a man. Their ages ranged from 33 to 41 years. Three (75%) were ambulatory and one (25%) was not. Two (50%) were in rehabilitation and the other two (50%) were not. The age of symptom onset was in the second decade of life in all four patients, and all four reported having affected family members with symptoms.

Conclusion: The GDAP1 gene mutation c.358C >T p.Arg120Trp has been found very frequently in the Spanish Mediterranean coastal population, with a founder effect in this area. The present findings in the Colombian Caribbean population highlight the presence of this mutation in Latin America and the Caribbean, which we must consider when evaluating patients with CMT2.