[Genetic variant analysis in patients with autosomal recessive demyelinating Charcot-Marie-Tooth disease]

Objective: To analyze the clinical and genetic mutation characteristics of Chinese patients with autosomal recessive demyelinating CMT (AR-CMT1/CMT4). Methods: A total of 244 patients clinically diagnosed with CMT at the Department of Neurology, PLA General Hospital between December 2012 and March 2023 were enrolled. Medical history collection, neurological examination, laboratory tests, nerve conduction studies (NCS), high-throughput nucleotide sequencing, and bioinformatics analysis were performed. Results: Among the 244 patients clinically diagnosed with CMT, 11 were found to carry 15 mutations in the FIG4, PRX, GDAP1, SBF1, SBF2, and SH3TC2 genes, including two previously unreported mutations: FIG4 (c.1039+2T>C) and SBF2 (c.1600+3A>G). According to ACMG guidelines, these two novel mutations were classified as pathogenic. Conclusion: AR-CMT1/CMT4 is a rare subtype of CMT. This study identified previously unreported mutations in SBF2 and FIG4 through genetic analysis of clinically diagnosed CMT patients, expanding the genetic spectrum of CMT in the Chinese population.