A TRAPPC6B splicing variant associates to restless legs syndrome

Paolo Aridon, Maurizio De Fusco, Juliane W. Winkelmann, Marco Zucconi, Valentina Arnao, Luigi Ferini-Strambi, Giorgio Casari

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)135-138
Number of pages4
JournalParkinsonism and Related Disorders
Volume31
DOIs
Publication statusPublished - Oct 1 2016

Keywords

  • Authors report no disclosures
  • Exome sequencing
  • Movement disorders
  • Restless legs syndrome
  • Sleep disorders
  • Splicing
  • Variation

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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