A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms

Conclusion A novel GJB1 variant of c.-170T>G in non-coding region was found in this big Chinese CMTX1 pedigree. This is the first report of variant in non-coding DNA sequence associated with transient CNS symptoms. Thyroid malfunction may contribute to the CNS symptoms in this case. Ethics Statement This study has been reviewed and approved by the Ethics Committee of the China-Japan Union Hospital of Jilin University. Each member of the family provided written informed consent to the participation in the study, the genetic test, and authorized to publish the study including the photos in accordance with the Declaration of Helsinki. Author Contributions SL and HJ were responsible for acquisition of data, drafting the manuscript. JC was responsible for revising the manuscript. LZ was responsible for study concept or design, drafting/revising the manuscript, and the final approval. Funding This work was supported by Norman Bethune Program of Jilin University (2015216) and Jilin Provincial Science and Technology Department, China (20180414049GH) to LZ. Conflict of Interest Statement The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Supplementary Material The Supplementary Material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fneur.2019.00413/full#supplementary-material References 1. Ouvrier R, Geevas...
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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