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Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation



Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. Until now, only a few studies have reported the clinical features of CMT1C.


This study was performed to find CMT1C patients with mutation of LITAF in a Korean CMT cohort and to characterize their clinical features.


In total, 1,143 unrelated Korean families with CMT were enrolled in a cohort. We performed whole exome sequencing to identify LITAF mutations, and examined clinical phenotypes including electrophysiological and MRI features for the identified CMT1C patients.


We identified 10 CMT1C patients from three unrelated families with p.G112S mutation in LITAF. The frequency of CMT1C among CMT1 patients was 0.59%, which is similar to reports from Western populations. CMT1C patients showed milder symptoms than CMT1A patients. The mean CMT neuropathy score version 2 was 7.7, and the mean functional disability scale was 1.0. Electrophysiological findings showed a conduction block in 22% of affected individuals. Lower extremity MRIs showed that the superficial posterior and anterolateral compartments of the calf were predominantly affected.


We found a conduction block in Korean CMT1C patients with p.G112S mutation and first described the characteristic MRI findings of the lower extremities in patients with LITAF mutation. These findings will be helpful for genotype–phenotype correlation and will widen understanding about the clinical spectrum of CMT1C.

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Availability of data and materials

All raw genetic and clinical data generated or analyzed during this study are available upon request to the corresponding author.


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This work was supported by grants from the National Research Foundation (2019R1A2C1087547, 2020M3H4A1A03084600, and 2021R1A4A2001389) and the Korean Health Technology R&D Project, Ministry of Health and Welfare (HI14C3484 and HI20C0039), Republic of Korea.

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Authors and Affiliations



B-OC and KWC planned and supervised this study. NYJ, AJL, and SHN performed the molecular genetic work. HMK. JK, and JP performed the clinical and neuroimaging work. NYJ, AJL, and KWC interpreted genetic data and conducted the statistical analyses. B-OC collected the participant samples and information. JP, HMK, B-OC, and KWC wrote the manuscript. All the co‑authors read and approved the final version of the manuscript.

Corresponding authors

Correspondence to Ki Wha Chung or Byung-Ok Choi.

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The authors have no competing interests to declare.

Ethics approval and consent to participate

This study was approved by the Institutional Review Boards of Sungkyunkwan University, Samsung Medical Center (2014–08-057–002), and Kongju National University (KNU-IRB-2018–62). Written informed consent was obtained from all participants.

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Not applicable.

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Park, J., Kim, H.S., Kwon, H.M. et al. Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation. Genes Genom (2022).

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  • Charcot-Marie-Tooth disease
  • CMT1C
  • Mutation
  • MRI