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. 2022 Sep;12(9):e2744.
doi: 10.1002/brb3.2744. Epub 2022 Aug 8.

Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease

Trung-Hieu Nguyen-Le  1 , Minh Duc Do  2 , Linh Hoang Gia Le  2 , Quynh Nhu Nguyen Nhat  2 , Nghia Trong Tien Hoang  3 , Tuan Van Le  1 , Thao Phuong Mai  1
Affiliations

Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease

Trung-Hieu Nguyen-Le et al. Brain Behav. 2022 Sep.

Abstract

Background: Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary neuropathies. Identifying causative mutations in CMT is essential as it provides important information for genetic diagnosis and counseling. However, genetic information of Vietnamese patients diagnosed with CMT is currently not available.

Methods: In this study, we described the clinical profile and determined the mutation spectrum of CMT in a cohort of Vietnamese patients with CMT by using a combination of multiplex ligation-dependent probe amplification and next-generation sequencing targeting 11 genes PMP22, MPZ, EGR2, NEFL, MFN2, GDAP1, GARS, MTMR2, GJB1, RAB7A, LITAF.

Results: In 31 CMT cases, the mutation detection rate was 42% and the most common genetic aberration was PMP22 duplication. The pedigree analysis showed two de novo mutations c.64C > A (p.P22T) and c.281delG (p.G94Afs*17) in the NEFL and PMP22 genes, respectively.

Conclusion: The results of this study once again emphasize the important role of molecular diagnosis and provide preliminary genetic data on Vietnamese patients with CMT.

Keywords: Charcot-Marie-Tooth disease; genetic mutation; multiplex ligation-dependent probe amplification; next-generation sequencing.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Genetic approach for patients with Charcot–Marie–Tooth (CMT) disease
FIGURE 2
FIGURE 2
Pedigree analysis of five families with Charcot–Marie–Tooth (CMT) disease harbored confirmed mutations
See this image and copyright information in PMC

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