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Zech, M. ; Gross, N.* ; Jochim, A.* ; Castrop, F. ; Kaffe, M. ; Dresel, C.* ; Lichtner, P. ; Peters, A. ; Gieger, C. ; Meitinger, T. ; Haslinger, B.* ; Winkelmann, J.

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Mov. Disord. 29, 143-147 (2014)
DOI PMC
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
Language english
Publication Year 2014
Prepublished in Year 2013
HGF-reported in Year 2013
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Journal Movement Disorders
Quellenangaben Volume: 29, Issue: 1, Pages: 143-147 Article Number: , Supplement: ,
Publisher Wiley
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
G-504000-001
G-504100-001
PubMed ID 24151159
DOI 10.1002/mds.25715
WOS ID WOS:000330009000029
Scopus ID 84892921433
Erfassungsdatum 2013-11-06
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