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Screening for SH3TC2 variants in Charcot–Marie–Tooth disease in a cohort of Chinese patients
- Source :
- Acta Neurologica Belgica. 122:1169-1175
- Publication Year :
- 2021
- Publisher :
- Springer Science and Business Media LLC, 2021.
-
Abstract
- Mutations in the SH3TC2 gene cause Charcot–Marie–Tooth disease type 4C (CMT4C), characterized by inherited demyelinating peripheral neuropathy. CMT4C is a common form of CMT4/autosomal recessive (AR) CMT1. This study examined the SH3TC2 variants, investigated genotype–phenotype correlations and explored the frequency of CMT4C in Chinese patients. A total of 206 unrelated patients of Chinese Han descent clinically diagnosed with CMT were recruited. All patients underwent detailed history-taking, neurological examination, laboratory workups, and electrophysiological studies. Genetic analysis was performed via high-throughput target sequencing (NGS). Three patients, one male and two females, were found to carry five SH3TC2 mutations: patient 1 (c.3154C > T, p.R1054X; c.929G > A, p.G310E); Patient 2 (c.2872_2872del, p.S958fs; c.3710C > T, p.A1237V) and Patient 3 (c.2782C > T, p.Q928X; c.929G > A, p.G310E). The c.2872_2872del, c.3710C > T and c.2782C > T variants were not reported before. CMT4C caused by SH3TC2 mutation is a very common type of CMT4/AR CMT1. Three novel mutations, c.2872_2872del, c.3710C > T and c.2782C > T, were found in this study. Combination of clinical phenotype, nerve conduction studies, genetic analysis and bioinformatics analysis are of vital importance in patients suspected as CMT.
- Subjects :
- medicine.medical_specialty
Mutation
Neurology
medicine.diagnostic_test
business.industry
Neurological examination
General Medicine
Disease
medicine.disease
medicine.disease_cause
Gastroenterology
Genetic analysis
03 medical and health sciences
0302 clinical medicine
Peripheral neuropathy
SH3TC2
Internal medicine
Cohort
medicine
030212 general & internal medicine
Neurology (clinical)
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 22402993 and 03009009
- Volume :
- 122
- Database :
- OpenAIRE
- Journal :
- Acta Neurologica Belgica
- Accession number :
- edsair.doi...........08f90b53e110e675881c089b9d8beb13