Startseite
English
Erweiterte Suche
Durchblättern nach ...
Publikationen im Überblick
Ansprechpartner
Hilfe
DOI
PMC
 |
|
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
A TRAPPC6B splicing variant associates to restless legs syndrome.
Parkinsonism Relat. Disord. 31, 135-138 (2016)
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.
Altmetric
Weitere Metriken?
Zusatzinfos bearbeiten
[➜Einloggen]
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Restless Legs Syndrome ; Exome Sequencing ; Variation ; Splicing ; Movement Disorders ; Sleep Disorders ; Authors Report No Disclosures
ISSN (print) / ISBN
1353-8020
e-ISSN
1873-5126
Zeitschrift
Parkinsonism & Related Disorders
Quellenangaben
Band: 31,
Seiten: 135-138
Verlag
Elsevier
Verlagsort
Oxford
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)