Neurological Sciences

, Volume 39, Issue 7, pp 1175–1183 | Cite as

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

  • Cailei Zhao
  • Qian Chen
  • Chunde Li
  • Jian Yang
  • Cong Li
  • Yangyang Zhou
  • Jianxiang Liao
Original Article


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.


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



No funding was received for this research.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants or their guardians included in the study.

Supplementary material

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ESM 1 (DOCX 19 kb)
10072_2018_3327_MOESM2_ESM.docx (18 kb)
ESM 2 (DOCX 18 kb)
10072_2018_3327_MOESM3_ESM.docx (27 kb)
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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Biomedical EngineeringXi’an Jiaotong UniversityXi’anChina
  2. 2.Department of RadiologyThe First Affiliated Hospital of Xi’an Jiaotong UniversityXi’anChina
  3. 3.Department of RadiologyShenzhen Children’s HospitalShenzhenChina
  4. 4.Department of NeurosurgeryShenzhen Children’s HospitalShenzhenChina
  5. 5.Department of Pediatric Neurosurgery, Beijing Tianan HospitalChina Capital Medical UniversityBeijingChina
  6. 6.Department of NeurologyShenzhen Children’s HospitalShenzhenChina

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