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Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A

  • Authors:
    • Yi You
    • Xiaodong Wang
    • Shan Li
    • Xiuli Zhao
    • Xue Zhang
  • View Affiliations / Copyright

    Affiliations: Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, P.R. China, Department of Paediatric Orthopaedics, The Children's Hospital of Soochow University, Suzhou, Jiangsu 215000, P.R. China
    Copyright: © You et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2281-2286
    |
    Published online on: July 24, 2018
       https://doi.org/10.3892/etm.2018.6513
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Abstract

Charcot‑Marie‑Tooth (CMT) is a group of inherited peripheral neuropathies. To date, mutations in >80 genes are reportedly associated with CMT. Protein mitofusin 2 encoded by MFN2 serves an essential role in mitochondrial fusion and regulation of apoptosis, which has previously been reported to be highly associated with an axonal form of neuropathy (CMT2A). In the present study, a large Chinese family with severe CMT was reported and a genetic analysis of the disease was performed. A detailed physical examination for CMT was performed in 13 family members and electrophysiological examinations were performed in 3 affected family members. Whole‑exome sequencing was performed on the proband, and the suspected variants were identified by Sanger sequencing. The pathogenicity of mutation was verified by restriction fragment length polymorphism analysis in the family followed by a bioinformatics analysis. A novel c.1190G>C; p.(R397P) mutation in the MFN2 gene was identified in the proband, and co‑segregated between genotype and phenotype in the family. The substituted amino acid changed the hydrophobicity and charge characteristics of the mitofusin 2 coiled‑coiled domain; thus it may affect its biological function. In summary, a novel pathogenic mutation was identified in a Chinese family with CMT, which expands the phenotypic and mutational spectrum of CMT2A, and provides evidence for prenatal interventions and more precise pharmacological treatments to this family.
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Copy and paste a formatted citation
Spandidos Publications style
You Y, Wang X, Li S, Zhao X and Zhang X: Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A. Exp Ther Med 16: 2281-2286, 2018.
APA
You, Y., Wang, X., Li, S., Zhao, X., & Zhang, X. (2018). Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A. Experimental and Therapeutic Medicine, 16, 2281-2286. https://doi.org/10.3892/etm.2018.6513
MLA
You, Y., Wang, X., Li, S., Zhao, X., Zhang, X."Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A". Experimental and Therapeutic Medicine 16.3 (2018): 2281-2286.
Chicago
You, Y., Wang, X., Li, S., Zhao, X., Zhang, X."Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A". Experimental and Therapeutic Medicine 16, no. 3 (2018): 2281-2286. https://doi.org/10.3892/etm.2018.6513
Copy and paste a formatted citation
x
Spandidos Publications style
You Y, Wang X, Li S, Zhao X and Zhang X: Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A. Exp Ther Med 16: 2281-2286, 2018.
APA
You, Y., Wang, X., Li, S., Zhao, X., & Zhang, X. (2018). Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A. Experimental and Therapeutic Medicine, 16, 2281-2286. https://doi.org/10.3892/etm.2018.6513
MLA
You, Y., Wang, X., Li, S., Zhao, X., Zhang, X."Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A". Experimental and Therapeutic Medicine 16.3 (2018): 2281-2286.
Chicago
You, Y., Wang, X., Li, S., Zhao, X., Zhang, X."Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot‑Marie‑Tooth type 2A". Experimental and Therapeutic Medicine 16, no. 3 (2018): 2281-2286. https://doi.org/10.3892/etm.2018.6513
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