Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients
| العنوان: | Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients |
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| المؤلفون: | Fei Yang, Li-Zhi Liu, Li Ling, Yifan Li, Zhao-Hui Chen, Xu-Sheng Huang, Bo Sun |
| المصدر: | Chinese Medical Journal, Vol 129, Iss 9, Pp 1011-1016 (2016) Chinese Medical Journal |
| بيانات النشر: | Wolters Kluwer, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | X-linked Charcot–Marie–Tooth Disease, Adult, Male, 0301 basic medicine, Adolescent, Genotype, Mutation, Missense, Neural Conduction, lcsh:Medicine, Gene mutation, medicine.disease_cause, Connexins, Connexin 32, Electrophysiology, Gap Junction Protein Beta 1, Genetic Mutation, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Missense mutation, education, Gene, Genetics, education.field_of_study, Mutation, business.industry, lcsh:R, Computational Biology, General Medicine, Middle Aged, Phenotype, 030104 developmental biology, Mutation testing, Original Article, Female, business, 030217 neurology & neurosurgery |
| الوصف: | Background: Among patients with Charcot–Marie–Tooth disease (CMT), the X-linked variant (CMTX) caused by gap junction protein beta 1 (GJB1) gene mutation is the second most frequent type, accounting for approximately 90% of all CMTX. More than 400 mutations have been identified in the GJB1 gene that encodes connexin 32 (CX32). CX32 is thought to form gap junctions that promote the diffusion pathway between cells. GJB1 mutations interfere with the formation of the functional channel and impair the maintenance of peripheral myelin, and novel mutations are continually discovered. Methods: We included 79 unrelated patients clinically diagnosed with CMT at the Department of Neurology of the Chinese People's Liberation Army General Hospital from December 20, 2012, to December 31, 2015. Clinical examination, nerve conduction studies, and molecular and bioinformatics analyses were performed to identify patients with CMTX1. Results: Nine GJB1 mutations (c.283G>A, c.77C>T, c.643C>T, c.515C>T, c.191G>A, c.610C>T, c.490C>T, c.491G>A, and c.44G>A) were discovered in nine patients. Median motor nerve conduction velocities of all nine patients were < 38 m/s, resembling CMT Type 1. Three novel mutations, c.643C>T, c.191G>A, and c.610C>T, were revealed and bioinformatics analyses indicated high pathogenicity. Conclusions: The three novel missense mutations within the GJB1 gene broaden the mutational diversity of CMT1X. Molecular analysis of family members and bioinformatics analyses of the afflicted patients confirmed the pathogenicity of these mutations. |
| اللغة: | English |
| تدمد: | 0366-6999 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee957ed56aa238f634713ae5867d257Test http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=9;spage=1011;epage=1016;aulast=SunTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....aee957ed56aa238f634713ae5867d257 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 03666999 |
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