期刊
MOVEMENT DISORDERS
卷 29, 期 1, 页码 143-147出版社
WILEY-BLACKWELL
DOI: 10.1002/mds.25715
关键词
dystonia; gene; ANO3; GNAL; rare variants
资金
- Technische Universitat Munchen and Helmholtz Zentrum Munchen, Munich, Germany
- Helmholtz Zentrum Munchen, Munich, Germany
- German Bundesministerium fur Bildung und Forschung (BMBF) [03.2007-02.2011 FKZ 01ET0713]
Background Rare autosomal-dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with predominantly craniocervical involvement. MethodsWe used high-resolution melting to screen all exons of ANO3 and GNAL for rare sequence variants in a population of 342 German individuals with mainly sporadic PTD and 376 general population controls. ResultsWe identified 2 novel missense variants in ANO3 (p.Ile833Val and p.Gly973Arg) and 1 novel missense variant in GNAL (p.Val146Met) in three different nonfamilial cases. Variant carriers presented with adult-onset dystonia involving the neck and/or face. In controls, 3 rare ANO3 missense variants (p.Tyr235Cys, p.Asn256Ser, and p.Pro893Leu) but no rare nonsynonymous GNAL variants were present. ConclusionsGNAL variants seem to be a rare cause of PTD in our mainly sporadic German sample. Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis. (c) 2013 International Parkinson and Movement Disorder Society
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