Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Is MED13L-related intellectual disability a recognizable syndrome?

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Increased risk of sudden death in untreated Primary Carnitine Deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the analysis of a handful of genes to the analysis of all genes associated with CMT in a single run. In this study we describe the CMT diagnostics in Denmark in 1992-2012, prior to the implementation of NGS, by combining laboratory- and national registry data. We investigate the effect of implementing a targeted NGS approach of 63 genes associated with CMT in the diagnostic laboratory setting. This was performed by analyzing a cohort of 195 samples from patients previously analyzed by Sanger sequencing and quantitative analysis for the common causes of CMT without reaching a molecular diagnosis. A total of 1442 CMT analyses were performed in Denmark in the period 1992-2012; a disease-causing variant was detected in 21.6% of the cases. Interestingly, the diagnosis was genetically confirmed in significantly more women than men; 25.9% compared to18.5%. In our study cohort, we found a 5.6% increase in the diagnostic yield with the introduction of a targeted NGS approach.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume62
Pages (from-to)1-8
ISSN1769-7212
DOIs
Publication statusPublished - 2019

ID: 55680487