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Mutations in GNAL cause primary torsion dystonia

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Overview

authors

  • Fuchs, T.
  • Saunders-Pullman, R.
  • Masuho, I.
  • Luciano, M. S.
  • Raymond, D.
  • Factor, S.
  • Lang, A. E.
  • Liang, T. W.
  • Trosch, R. M.
  • White, S.
  • Ainehsazan, E.
  • Herve, D.
  • Sharma, N.
  • Ehrlich, M. E.
  • Martemyanov, Kirill
  • Bressman, S. B.
  • Ozelius, L. J.

publication date

  • January 2013

journal

  • Nature Genetics  Journal

abstract

  • Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular pathophysiology is poorly understood, in part owing to limited knowledge of the genetic basis of the disorder. Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref. 5), have been identified. Using exome sequencing in two families with PTD, we identified a new causative gene, GNAL, with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutation encoding p.Val137Met in the other. Screening of GNAL in 39 families with PTD identified 6 additional new mutations in this gene. Impaired function of several of the mutants was shown by bioluminescence resonance energy transfer (BRET) assays.

subject areas

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Amino Acid Sequence
  • Child
  • Dystonia Musculorum Deformans
  • Family
  • Female
  • GTP-Binding Protein alpha Subunits
  • Gene Order
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Phenotype
  • Sequence Alignment
  • Young Adult
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Identity

PubMed Central ID

  • PMC3530620

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng.2496

PubMed ID

  • 23222958
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Additional Document Info

start page

  • 88

end page

  • 92

volume

  • 45

issue

  • 1

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