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Article

Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel

  • Authors:
    • Yu Dai
    • Chenghui Wang
    • Zhipeng Nie
    • Jiamin Han
    • Ting Chen
    • Xiaoxu Zhao
    • Cheng Ai
    • Yanchun Ji
    • Tao Gao
    • Pingping Jiang
  • View Affiliations / Copyright

    Affiliations: The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, P.R. China, Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, P.R. China, Institute of Genetics, Zhejiang University, and Department of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, P.R. China
  • Pages: 51-58
    |
    Published online on: November 8, 2017
       https://doi.org/10.3892/br.2017.1014
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Abstract

The present study investigates the spectrum and incidence of mitochondrial DNA (mtDNA) mutations associated with Leber's hereditary optic neuropathy (LHON) in a Han population using a multi‑gene panel with 46 LHON‑associated mutations among 13 mitochondrial genes. A total of 23 mutations were observed in a cohort of 275 patients and 281 control subjects using multi‑gene panel analysis. The causative mutations associated with LHON were identified to be m.11778G>A, m.14484T>C, m.3460 G>A, m.3635G>A, m.3866T>C and m.3733G>A, responsible for 70.55% cases in the patient cohort. The secondary mutations in the Chinese LHON population were m.12811T>C, m.11696 G>A, m.3316G>A, m.3394T>C, m.14502T>C, m.3497C>T, m.3571C>T, m.12338T>C, m.14693A>G, m.4216T>C and m.15951A>G, with incidences of 5.09, 4.36, 4.00, 4.00, 4.00, 2.55, 1.82, 1.82, 1.45, 1.09 and 1.09%, respectively. Besides three hotspot genes, MT‑ND1, MT‑ND4 and MT‑ND6, MT‑ND5 also had a high incidence of secondary mutations. Those mutations reported as rare causative mutations in a European LHON population, m.3376G>A, m.3700G>A and m.4171C>A, m.10663T>C, m.13051G>A, m.14482C>G/A, m.14495A>G and m.14568C>T were undetected in the present study. The primary and secondary mutations associated with LHON in the present multi‑gene panel will advance the current understanding of the clinical phenotype of LHON, and provide useful information for early diagnosis.
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Copy and paste a formatted citation
Spandidos Publications style
Dai Y, Wang C, Nie Z, Han J, Chen T, Zhao X, Ai C, Ji Y, Gao T, Jiang P, Jiang P, et al: Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel. Biomed Rep 8: 51-58, 2018.
APA
Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X. ... Jiang, P. (2018). Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel. Biomedical Reports, 8, 51-58. https://doi.org/10.3892/br.2017.1014
MLA
Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P."Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel". Biomedical Reports 8.1 (2018): 51-58.
Chicago
Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P."Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel". Biomedical Reports 8, no. 1 (2018): 51-58. https://doi.org/10.3892/br.2017.1014
Copy and paste a formatted citation
x
Spandidos Publications style
Dai Y, Wang C, Nie Z, Han J, Chen T, Zhao X, Ai C, Ji Y, Gao T, Jiang P, Jiang P, et al: Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel. Biomed Rep 8: 51-58, 2018.
APA
Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X. ... Jiang, P. (2018). Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel. Biomedical Reports, 8, 51-58. https://doi.org/10.3892/br.2017.1014
MLA
Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P."Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel". Biomedical Reports 8.1 (2018): 51-58.
Chicago
Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P."Mutation analysis of Leber's hereditary optic neuropathy using a multi‑gene panel". Biomedical Reports 8, no. 1 (2018): 51-58. https://doi.org/10.3892/br.2017.1014
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