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Screening of mutations in GNAL in sporadic dystonia patients
Claudia Dufke1, Marc Sturm, Christopher Schroeder
1Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany.
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.
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