ArticleBMC medical genetics2013
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
Article in BMC medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of neurology · 2017Pooled it
- Unravelling High Nuclear Genomic Similarity and Mitochondria Linked Epigenetic Divergence in SCNT Derived Buffalo Clones via Long-Read Nanopore Genome Sequencing.International journal of molecular sciences · 2025Article
- A comparative study of structural variant calling in WGS from Alzheimer's disease families.Life science alliance · 2024Article
- Peripheral Nerve Ultrasound for the Differentiation between ALS, Inflammatory, and Hereditary Polyneuropathies.Medicina (Kaunas, Lithuania) · 2023Article
- Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.Biomedicines · 2022Article
- Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.Molecular genetics & genomic medicine · 2022Article
- Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous MarriagesBalkan medical journal · 2022Article
- Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.Molecular genetics & genomic medicine · 2021Article
- Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.Frontiers in genetics · 2021Article
- Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.Journal of neurology, neurosurgery, and psychiatry · 2019Article
- Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.International journal of molecular sciences · 2017Article
- Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.PLoS genetics · 2016Article
- Copy number variations in a population-based study of Charcot-Marie-Tooth disease.BioMed research international · 2015Article
- The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.The application of clinical genetics · 2015Review
- The promise and perils of HDAC inhibitors in neurodegeneration.Annals of clinical and translational neurology · 2015Review
- A brief review of recent Charcot-Marie-Tooth research and priorities.F1000Research · 2015Review
- Genes Downregulated in Endometriosis Are Located Near the Known Imprinting Genes.Reproductive sciences (Thousand Oaks, Calif.) · 2014Article
- Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.BMC medical genetics · 2014Article
- Imprinting genes associated with endometriosis.EXCLI journal · 2014Review
- Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.BioMed research international · 2014Article
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6 authors.
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Abstract
backgroundCurrent genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and neurophysiological data gathered under ideal conditions for clinical assessment. However, in a diagnostic laboratory setting relying on external test requisitions and patient samples, such conditions are not always met. Our objective was therefore to perform a retrospective evaluation of the data given in laboratory request forms and to assess their quality and applicability with regard to the recommended algorithms for CMT diagnostics. As we are the main test centre for CMT in Norway our results also provide an overview of the spectrum of gene defects in the Norwegian CMT population.
methodsGenetic testing was performed according to polyneuropathy type; demyelinating/mixed: PMP22 duplication, MPZ, EGR2, LITAF, NEFL, PMP22, GJB1, axonal: MFN2, MPZ, NEFL, and GJB1.
resultsDiagnostic testing of index patients was requested in 435 of the 549 cases. Seventy-two (16.6%) positive molecular genetic findings were made. The majority (94.6%) of mutation positive cases showed disease onset before 50 years of age. PMP22 (duplication), MPZ, GJB1 and MFN2 mutations constituted 95.8% of the positive findings. Within the nerve conduction study groups, mutation detection rates were; demyelinating 33.8%; mixed 29.0%; axonal 8.8%; unspecified 16.5%.
conclusionWe suggest a simplified algorithm intended for referral centres, dealing with DNA/blood samples, which involves the assessment of age at onset and neurophysiological data followed by testing of four genes; PMP22 (duplication), MPZ, GJB1 and MFN2. Patients negative for mutations in those four genes should be subjected to evaluation at an interdisciplinary inherited neuropathy clinic with the capacity for extended molecular genetic analysis by next generation sequencing.
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