MEIS1 p.R272H IN FAMILIAL RESTLESS LEGS SYNDROME

Restless legs syndrome (RLS, OMIM 102300) is a neurologic condition characterized by a distressing urge to move the legs, usually accompanied by an uncomfortable sensation described as a crawling, muscle ache, or tension.It is usually brought on by rest, worse in the evening or night, and relieved by movement. 1Recently, MEIS1 and BTBD9 have been identified and confirmed as RLS susceptibility genes; however, all the variants found to be associated with disease are located deep in intronic regions and are not thought to be functional. [2]3][4] To date, sequencing of MEIS1 and BTBD9 in RLS samples has not been reported and therefore functional variants responsible for the increased disease risk have not been identified.Here we report sequencing of all MEIS1 and BTBD9 coding exons and exon-intron boundaries in RLS familial probands followed by assessment of segregation of novel variants with disease within families and evaluation of prevalence in patients with RLS and the general population.