ArticlePloS one2011
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 58 papers, 1 of them a synthesis that pooled it.
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Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 93 citations in OpenAlex.
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of neurology · 2017Pooled it
- Advances in Research onGenes · 2026Review
- Evaluation of the Role of Tanshinone I in an In Vitro System of Charcot-Marie-Tooth Disease Type 2N.International journal of molecular sciences · 2024Article
- Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.Journal of neuromuscular diseases · 2024Review
- AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings.Frontiers in neurology · 2024Article
- Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects.Journal, genetic engineering & biotechnology · 2023Article
- An Adapted GeneSwitch Toolkit for Comparable Cellular and Animal Models: A Proof of Concept in Modeling Charcot-Marie-Tooth Neuropathy.International journal of molecular sciences · 2023Article
- Targeting the epigenome of cancer stem cells in pediatric nervous system tumors.Molecular and cellular biochemistry · 2023Review
- Neurofilaments in health and Charcot-Marie-Tooth disease.Frontiers in cell and developmental biology · 2023Review
- Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.Neurology. Genetics · 2022Article
- Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.Brain and behavior · 2022Article
- Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.Molecular genetics & genomic medicine · 2022Article
- Case Report: Early-Onset Charcot-Marie-Tooth 2N With Reversible White Matter Lesions Repeatedly Mimicked Stroke or Encephalitis.Frontiers in pediatrics · 2022Article
- The uniqueness of AlaRS and its human disease connections.RNA biology · 2021Review
- tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase.Science (New York, N.Y.) · 2021Article
- Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?Journal of neurochemistry · 2021Review
- ATG9A regulates proteostasis through reticulophagy receptors FAM134B and SEC62 and folding chaperones CALR and HSPB1.iScience · 2021Article
- CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.Cytoskeleton (Hoboken, N.J.) · 2021Review
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
Corrections and comments
- Erratum issuedAntonellis, Antony [corrected to Antonellis, Anthony]
Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCharcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous group of inherited axonal neuropathies. The aim of this study was to extensively investigate the mutational spectrum of CMT2 in a cohort of patients of Han Chinese. METHODOLOGY AND PRINCIPAL
findingsGenomic DNA from 36 unrelated Taiwanese CMT2 patients of Han Chinese descent was screened for mutations in the coding regions of the MFN2, RAB7, TRPV4, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, DNM2, AARS and YARS genes. Ten disparate mutations were identified in 14 patients (38.9% of the cohort), including p.N71Y in AARS (2.8%), p.T164A in HSPB1 (2.8%), and p.[H256R]+[R282H] in GDAP1 (2.8%) in one patient each, three NEFL mutations in six patients (16.7%) and four MFN2 mutations in five patients (13.9%). The following six mutations were novel: the individual AARS, HSPB1 and GDAP1 mutations and c.475-1G>T, p.L233V and p.E744M mutations in MFN2. An in vitro splicing assay revealed that the MFN2 c.475-1G>T mutation causes a 4 amino acid deletion (p.T159_Q162del). Despite an extensive survey, the genetic causes of CMT2 remained elusive in the remaining 22 CMT2 patients (61.1%). CONCLUSIONS AND SIGNIFICANCE: This study illustrates the spectrum of CMT2 mutations in a Taiwanese CMT2 cohort and expands the number of CMT2-associated mutations. The relevance of the AARS and HSPB1 mutations in the pathogenesis of CMT2 is further highlighted. Moreover, the frequency of the NEFL mutations in this study cohort was unexpectedly high. Genetic testing for NEFL and MFN2 mutations should, therefore, be the first step in the molecular diagnosis of CMT2 in ethnic Chinese.
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