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Open Access Green as soon as Postprint is submitted to ZB.
Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
Mov. Disord. 29, 143-147 (2014)
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. METHODS: We 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. RESULTS: We 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. CONCLUSIONS: GNAL 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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Dystonia ; Gene ; Ano3 ; Gnal ; Rare Variants; Disease; Mutations; Pathogenesis
ISSN (print) / ISBN
0885-3185
e-ISSN
1531-8257
Journal
Movement Disorders
Quellenangaben
Volume: 29,
Issue: 1,
Pages: 143-147
Publisher
Wiley
Non-patent literature
Publications
Reviewing status
Peer reviewed