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A TRAPPC6B splicing variant associates to restless legs syndrome

Paolo Aridon¹, Maurizio De Fusco², Juliane W Winkelmann³

¹Vita-Salute San Raffaele University and Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy; Dipartimento di BioMedicina Sperimentale e Neuroscienze Cliniche-BioNec, Università di Palermo, Palermo, Italy.

Parkinsonism & Related Disorders

|August 30, 2016

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.

Keywords:

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

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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