OpenSSL SSL_connect: Connection reset by peer in connection to v2.sherpa.ac.uk:443 PuSH - Publication Server of Helmholtz Zentrum München: A <em>TRAPPC6B</em> splicing variant associates to restless legs syndrome.

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Aridon, P.* ; De Fusco, M.* ; Winkelmann, J. ; Zucconi, M.* ; Arnao, V.* ; Ferini-Strambi, L.* ; Casari, G.*

A TRAPPC6B splicing variant associates to restless legs syndrome.

Parkinsonism Relat. Disord. 31, 135-138 (2016)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Introduction: RLS is a common movement disorders with a strong genetic component in its pathophysiology, but, up to now, no causative mutation has been reported. Methods: We re-evaluated the previously described RLS2 family by exome sequencing. Results: We identified fifteen variations in the 14q critical region. The c.485G > A transition of the TRAPPC6B gene segregates with the RLS2 haplotype, is absent in 200 local controls and is extremely rare in 12988 exomes from the Exome Variant Server (EVS). This variant alters a splicing site and hampers the normal transcript processing by promoting exon 3-skipping as demonstrated by minigene transfection and by patient transcripts. Conclusions: We identified a TRAPPC6B gene mutation associated to the RLS locus on chromosome 14.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Restless Legs Syndrome ; Exome Sequencing ; Variation ; Splicing ; Movement Disorders ; Sleep Disorders ; Authors Report No Disclosures
ISSN (print) / ISBN 1353-8020
e-ISSN 1873-5126
Journal Parkinsonism & Related Disorders
Quellenangaben Volume: 31, Issue: , Pages: 135-138 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place Oxford
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)