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Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients
- Source :
- Chinese Medical Journal, Vol 129, Iss 9, Pp 1011-1016 (2016), Chinese Medical Journal
- Publication Year :
- 2016
- Publisher :
- Wolters Kluwer, 2016.
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 03666999
- Volume :
- 129
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Chinese Medical Journal
- Accession number :
- edsair.doi.dedup.....aee957ed56aa238f634713ae5867d257