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The association of NF2 (neurofibromin 2) gene polymorphism and the risk of medulloblastomas

Neurological Sciences volume 39, pages 1175–1183 (2018)Cite this article

Abstract

To explore the relationship between NF2 promoter gene mutation and the risk of medulloblastomas (MBs). We collected tissues from 16 MB patients and 7 age-matched non-MB controls. Gene sequencing, qPCR (real-time quantitative polymerase chain reaction), IHC (immunohistochemistry), and WB (Western blot) were used to analyze the changes in the NF2 gene sequence and expression between patients and controls. We found that NF2 promoter gene mutations occurred in MB patients. The NF2 mRNA expression was higher in the controls than in patients (p = 0.03 < 0.05); however, the results of IHC and WB demonstrated that the NF2 protein expression was significantly higher in patients than in the controls (IHC: p = 0.0001; WB: p = 0.01). There was no significant difference in the CRL4 mRNA and protein levels. In addition, NF2 protein was mainly expressed in the nucleus in MB patients, while the NF2 protein was mainly expressed in the cytoplasm in the controls. NF2 promoter mutations exist in MB patients. NF2 mRNA expression was higher in controls than patients; whereas NF2 protein level was higher in patients than in controls.

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Affiliations

  1. Department of Biomedical Engineering, Xi’an Jiaotong University, Xi’an, No. 277, Yantaxi Road, Xi’an, 710061, China

    Cailei Zhao

  2. Department of Radiology, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, No. 277, Yantaxi Road, Xi’an, 710061, China

    Cailei Zhao & Jian Yang

  3. Department of Radiology, Shenzhen Children’s Hospital, Shenzhen, China

    Cailei Zhao & Yangyang Zhou

  4. Department of Neurosurgery, Shenzhen Children’s Hospital, Shenzhen, No. 7019, Yitian Road, Shenzhen, 518038, China

    Qian Chen & Cong Li

  5. Department of Pediatric Neurosurgery, Beijing Tianan Hospital, China Capital Medical University, Beijing, China

    Chunde Li

  6. Department of Neurology, Shenzhen Children’s Hospital, Shenzhen, No. 7019, Yitian Road, Shenzhen, 518038, China

    Jianxiang Liao

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  1. Cailei Zhao
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Correspondence to Qian Chen, Chunde Li, Jian Yang or Jianxiang Liao.

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Zhao, C., Chen, Q., Li, C. et al. The association of NF2 (neurofibromin 2) gene polymorphism and the risk of medulloblastomas. Neurol Sci 39, 1175–1183 (2018). https://doi.org/10.1007/s10072-018-3327-0

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  • DOI: https://doi.org/10.1007/s10072-018-3327-0

Keywords

  • NF2 (neurofibromin2)
  • Medulloblastomas (MB)
  • Quantitative real-time PCR (qPCR)
  • Western blot (WB)
  • Promoter mutation