We have detected you are coming from a location outside of Germany.
Wir haben festgestellt, dass Sie von einem Standort außerhalb Deutschlands auf diese Seite gelangt sind.

Please select your preferred language:
Bitte wählen Sie eine der folgenden Sprachoptionen:
  • Zurück
  • Startseite
  • Mediathek
  • Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

Autor: Daud D, [...], Kleinle S, et al.
|
Veröffentlichungsdatum: 10.05.2015

Zugehörige Fachbereiche

Humangenetik

 

Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to identify causative mutations in complex, undiagnosed genetic conditions. Causative mutations are usually identified after filtering the hundreds of variants on WES from an individual's DNA selected by the phenotype. We investigated a patient with a slowly progressive chronic axonal distal motor neuropathy and extrapyramidal syndrome using WES, in whom common genetic mutations had been excluded. Variant filtering identified potentially deleterious mutations in three known disease genes: DCTN1, KIF5A and NEFH, which  have been all associated with similar clinical presentations of amyotrophic lateral sclerosis, Parkinsonism and/or hereditary spastic paraplegia. Predicting  the functional effect of the mutations were analysed in parallel with detailed clinical investigations. This case highlights the difficulties and pitfalls of applying WES in patients with complex neurological diseases and serves as an instructive tale.

 J Neurol. 2015;262(7):1673-1677.

http://doi.org/10.1007/s00415-015-7755-y

Es wurden keine Änderungen des Artikels vorgenommen.

https://creativecommons.org/licenses/by/4.0/