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Screening of mutations in GNAL in sporadic dystonia patients
Author(s) -
Dufke Claudia,
Sturm Marc,
Schroeder Christopher,
Moll Susanne,
Ott Thomas,
Riess Olaf,
Bauer Peter,
Grundmann Kathrin
Publication year - 2014
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.25794
Subject(s) - dystonia , nonsynonymous substitution , cervical dystonia , exon , nonsense mutation , nonsense , mutation , torticollis , genetics , movement disorders , medicine , missense mutation , biology , gene , psychiatry , disease , genome
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. © 2014 International Parkinson and Movement Disorder Society