Mutation screening of VPS16 gene in patients with isolated dystonia

Parkinsonism Relat Disord. 2021 Feb:83:63-65. doi: 10.1016/j.parkreldis.2020.12.014. Epub 2021 Jan 12.

Abstract

Mutations in VPS16 have been identified to be responsible for generalized dystonia. We screened VPS16 variants in 53 unrelated subjects with isolated dystonia via whole-exome sequencing. A novel pathogenic frameshift mutation p.R643fs* was found in a patient with early-onset multifocal dystonia with prominent oromandibular and bulbar involvement. Our findings expanded the spectrum of VPS16-related dystonia and suggested that mutations in VPS16 should be considered in patients with progressive early-onset dystonia.

Keywords: Dystonia; Mutation; VPS16.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / physiopathology*
  • Exome Sequencing
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Middle Aged
  • Vesicular Transport Proteins / genetics*

Substances

  • VPS16 protein, human
  • Vesicular Transport Proteins