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Article

Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease

  • Authors:
    • Ai-Qian Zhang
    • Yu-Xing Liu
    • Jie-Yuan Jin
    • Chen-Yu Wang
    • Liang-Liang Fan
    • Da-Bao Xu
  • View Affiliations / Copyright

    Affiliations: Department of Obstetrics and Gynecology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China, Department of Cell Biology, School of Life Sciences, Central South University, Changsha, Hunan 410013, P.R. China
  • Article Number: 510
    |
    Published online on: March 19, 2021
       https://doi.org/10.3892/etm.2021.9941
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Abstract

Deficiency of the sixth complement component (C6D) is a genetic disease associated with increased susceptibility to Neisseria meningitides infection. Individuals with C6D usually present with recurrent meningococcal disease (MD). According to the patients' C6 levels, C6D is divided into complete genetic deficiency of C6 and subtotal deficiency of C6 (C6SD). The present study reported on a Han Chinese pediatric patient with MD, in whom further investigation revealed a C6SD genetic lesion. A heterozygote nonsense mutation (c.1062C>G/p.Y354*) in the C6 gene was identified by Sanger sequencing. The mutation alters the tyrosine codon at position 354 to a termination codon and results in a truncated protein. In conclusion, the genetic lesion of a pediatric patient with C6SD who was diagnosed due to having MD was investigated and a novel pathogenic mutation in the C6 gene was identified. The study confirmed the clinical diagnosis for this patient with C6SD and also expanded the spectrum of C6 mutations.
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Copy and paste a formatted citation
Spandidos Publications style
Zhang A, Liu Y, Jin J, Wang C, Fan L and Xu D: Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease. Exp Ther Med 21: 510, 2021.
APA
Zhang, A., Liu, Y., Jin, J., Wang, C., Fan, L., & Xu, D. (2021). Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease. Experimental and Therapeutic Medicine, 21, 510. https://doi.org/10.3892/etm.2021.9941
MLA
Zhang, A., Liu, Y., Jin, J., Wang, C., Fan, L., Xu, D."Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease". Experimental and Therapeutic Medicine 21.5 (2021): 510.
Chicago
Zhang, A., Liu, Y., Jin, J., Wang, C., Fan, L., Xu, D."Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease". Experimental and Therapeutic Medicine 21, no. 5 (2021): 510. https://doi.org/10.3892/etm.2021.9941
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang A, Liu Y, Jin J, Wang C, Fan L and Xu D: Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease. Exp Ther Med 21: 510, 2021.
APA
Zhang, A., Liu, Y., Jin, J., Wang, C., Fan, L., & Xu, D. (2021). Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease. Experimental and Therapeutic Medicine, 21, 510. https://doi.org/10.3892/etm.2021.9941
MLA
Zhang, A., Liu, Y., Jin, J., Wang, C., Fan, L., Xu, D."Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease". Experimental and Therapeutic Medicine 21.5 (2021): 510.
Chicago
Zhang, A., Liu, Y., Jin, J., Wang, C., Fan, L., Xu, D."Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease". Experimental and Therapeutic Medicine 21, no. 5 (2021): 510. https://doi.org/10.3892/etm.2021.9941
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