Charles Explorer logo
🇬🇧

VARIANT SCREENING OF THE CODING REGIONS OF MEIS1 IN PATIENTS WITH RESTLESS LEGS SYNDROME

Publication at First Faculty of Medicine |
2011

Abstract

Restless legs syndrome (RLS) is a common and genetically complex neurologic disease presenting with an urge to move the legs and dysesthesias in the evening and at times of rest. Genome-wide association studies have linked single nucleotide polymorphisms in MEIS1 and 3 other loci to an increased susceptibility to RLS.1,–,3 However, to date, only one potentially causal variant has been reported.4 Therefore, we screened the coding regions and exon-intron boundaries of MEIS1 for variants, which by exerting a strong phenotypic effect could provide a basis for assessing the function of the gene in RLS.