Journal
NATURE GENETICS
Volume 45, Issue 1, Pages 88-U128Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2496
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Funding
- Dystonia Medical Research Foundation
- Bachmann-Strauss Dystonia and Parkinson Foundation
- Lockwood Family Foundation
- National Institute of Neurological Disorders and Stroke [NS26656, NS037409, K02-NS073836]
- National Institute on Drug Abuse [DA021743, DA026405]
- Agence Nationale de la Recherche [ANR09-MNPS-014]
- Lung GO Sequencing Project [HL-102923]
- Women's Health Initiative (WHI) Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [K02NS073836, P50NS037409, R01NS026656, P01NS037409] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON DRUG ABUSE [K02DA026405, R01DA021743] Funding Source: NIH RePORTER
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Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures(1,2). 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)(3), THAP1 (DYT6)(4) 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.
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