ArticleEuropean journal of human genetics : EJHG2014
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.FEBS open bio · 2022Article
- Article
- Small heat shock proteins in neurodegenerative diseases.Cell stress & chaperones · 2020Review
- Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.Neurology · 2020Article
- A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.Nature communications · 2019Article
- Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.Neurology. Genetics · 2018Article
- A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.Chinese medical journal · 2017Article
- Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.Molecules and cells · 2016Article
- Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.Oncotarget · 2016Article
- The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.Neuromolecular medicine · 2016Article
- Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.Frontiers in molecular biosciences · 2016Review
- Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.European journal of human genetics : EJHG · 2015Article
- Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Neurology. Genetics · 2015Article
- CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.Neurology. Genetics · 2015Article
- Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.BBA clinical · 2015Article
- A brief review of recent Charcot-Marie-Tooth research and priorities.F1000Research · 2015Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth disease (CMT) is a group of hereditary peripheral neuropathies. The dominantly inherited axonal CMT2 displays striking genetic heterogeneity, with 17 presently known disease genes. The large number of candidate genes, combined with lack of genotype-phenotype correlations, has made genetic diagnosis in CMT2 time-consuming and costly. In Finland, 25% of dominant CMT2 is explained by either a GDAP1 founder mutation or private MFN2 mutations but the rest of the families have remained without molecular diagnosis. Whole-exome and genome sequencing are powerful techniques to find disease mutations for CMT patients but they require large amounts of sequencing to confidently exclude heterozygous variants in all candidate genes, and they generate a vast amount of irrelevant data for diagnostic needs. Here we tested a targeted next-generation sequencing approach to screen the CMT2 genes. In total, 15 unrelated patients from dominant CMT2 families from Finland, in whom MFN2 and GDAP1 mutations had been excluded, participated in the study. The targeted approach produced sufficient sequence coverage for 95% of the 309 targeted exons, the rest we excluded by Sanger sequencing. Unexpectedly, the screen revealed a disease mutation only in one family, in the HSPB1 gene. Thus, new disease genes underlie CMT2 in the remaining families, indicating further genetic heterogeneity. We conclude that targeted next-generation sequencing is an efficient tool for genetic screening in CMT2 that also aids in the selection of patients for genome-wide approaches.
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