ArticleBMJ open2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Article in BMJ open, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 62 citations in OpenAlex.
- Late-onset CMT neuropathy in the NGS era: a 10-year retrospective study.Journal of neurology · 2026Article
- Using image classifiers to predict CMT2A disease-relevant mitochondrial motility phenotypes in iPSC motor neurons.bioRxiv : the preprint server for biology · 2026Article
- Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.Annals of neurology · 2025Article
- Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.Journal of the peripheral nervous system : JPNS · 2025Article
- Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.European journal of neurology · 2025Observational
- Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy.Annals of clinical and translational neurology · 2025Review
- A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.Scientific reports · 2025Article
- Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.Brain : a journal of neurology · 2025Article
- Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.BMC neurology · 2024Article
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell HarboringBiomedicines · 2024Article
- Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.International journal of molecular sciences · 2024Article
- Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.Molecular genetics & genomic medicine · 2023Review
- Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.Neurology. Genetics · 2022Article
- Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.BMC neurology · 2022Article
- Next-generation sequencing and targeted quantitative real-time polymerase chain reaction for detection ofAnnals of translational medicine · 2022Article
- Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.Life (Basel, Switzerland) · 2022Article
- Article
- Compendium of causative genes and their encoded proteins for common monogenic disorders.Protein science : a publication of the Protein Society · 2022Article
- [Clinical, pathological and genetic characteristics of 8 patients with distal hereditary motor neuropathy].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2021Article
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeInherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy. We also describe several novel likely pathogenic variants. DESIGN AND
participantsWe have completed the targeted NGS of 81 IPN genes in a cohort of 123 unrelated patients affected with diverse forms of IPNs, mostly Charcot-Marie-Tooth disease (CMT): 23% CMT1, 52% CMT2, 9% distal hereditary motor neuropathy, 7% hereditary sensory and autonomic neuropathy and 6.5% intermediate CMT.
resultsWe have solved the molecular diagnosis in 49 of 123 patients (~40%). Among the identified variants, 26 variants were already reported in the literature. In our cohort, the most frequently mutated genes are respectively:
conclusionNGS allowed to identify causal mutations in a shorter and cost-effective time. Actually, targeted NGS is a well-suited strategy for efficient molecular diagnosis of IPNs. However, NGS leads to the identification of numerous variants of unknown significance, which interpretation requires interdisciplinary collaborations between molecular geneticists, clinicians and (neuro)pathologists.
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