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

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

  • Published online on: November 8, 2017     https://doi.org/10.3892/br.2017.1014
  • Pages:51-58
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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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January 2018
Volume 8 Issue 1

Print ISSN: 2049-9434
Online ISSN:2049-9442

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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