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

Mov Disord. 2013 Oct 22. doi: 10.1002/mds.25715. [Epub ahead of print]

Authors/Editors: Zech M, Gross N, Jochim A, Castrop F, Kaffe M, Dresel C, Lichtner P, Peters A, Gieger C, Meitinger T, Haslinger B, Winkelmann J.
Publication Date: 2013

winklmann-mov-disord-2013

Abstract

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. © 2013 International Parkinson and Movement Disorder Society.

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