A Novel RNF139 Mutation in Hemangioblastomas: Case Report

Conclusion We report a novel mutation of RNF139 p.Q650R (c.A1949G) in a family diagnosed with HBs. Based on the important role of RNF139 gene in the development of cancer, the pathogenicity of the mutation, and the clinical manifestation of the patient (phenotypic characterization), we hypothesized that this mutation could play a pathogenic role in the mechanism of HBs progression. Ethics Statement This study was approved by the ethics committee of Hunan Brain Hospital. A written informed consent was obtained from the patients for the publication of this case report. No investigation or intervention was performed outside routine clinical care for these patients. Author Contributions PY and LiaL conceived the idea, revised all the literature, and wrote the manuscript. BL, LinL, and HxH collected the clinical data. KL analyzed and interpreted brain imaging. HL and WZ performed the NGS and Sanger sequencing. HyH, SZ, and FL contributed to the revision of the manuscript, read, and approved the submitted version. Funding This work was supported by grants from the National Natural Science Foundation of China (Grant No. 81603512, 81874429), Natural Science Foundation of Hunan Province (Grant No. 2018JJ2289), Foundation of Health and Family Planning Commission of Hunan Province (Grant No. B2016030), and Chinese Medicine Science & Research Project of Hunan Province (Grant No. 201818). Conflict of Interest Statement The authors declare that the research was conducted i...
Source: Frontiers in Neurology - Category: Neurology Source Type: research