title: Screening of mutations in GNAL in sporadic dystonia patients.
abstract: BACKGROUND
  GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures.
  
  
  METHODS
  To test the frequency of GNAL mutations in a series of 137 German patients with sporadic dystonia patients we used next-generation sequencing of amplicon-derived barcoded NexteraXT libraries for the coding exons and adjacent intronic sequences of GNAL.
  
  
  RESULTS
  In our cohort we identified 1 pathogenic nonsense mutation (c.733C>T, p.R245*) in a patient with cervical dystonia. In a second patient a synonymous coding nonsynonymous variant (c.G252A, p.E84E) was detected, which is predicted to alter a splice site.
  
  
  CONCLUSIONS
  Our findings further support GNAL as causative gene in adult-onset isolated dystonia.
authors.affiliation: Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Dufke
authors.forename: Marc
authors.initials: M
authors.lastname: Sturm
authors.forename: Christopher
authors.initials: C
authors.lastname: Schroeder
authors.forename: Susanne
authors.initials: S
authors.lastname: Moll
authors.forename: Thomas
authors.initials: T
authors.lastname: Ott
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Kathrin
authors.initials: K
authors.lastname: Grundmann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D055815:Young Adult
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D044385:GTP-Binding Protein alpha Subunits; D009687:Nuclear Proteins; C474080:THAP1 protein, human; C084618:olfactory G protein subunit alpha olf
keywords: GNAL; isolated dystonia; mutation; next-generation sequencing