Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

Movement Disorders : Official Journal of the Movement Disorder Society
Antonetta M G SasVincenzo Bonifati

Abstract

Six chromosomal loci have been mapped for restless legs syndrome (RLS) through family-based linkage analysis (RLS-1 to RLS-6), but confirmation has met with limited success, and causative mutations have not yet been identified. We ascertained a large multigenerational Dutch family with RLS of early onset (average 18 years-old). The clinical study included a follow-up of 2 years. To map the underlying genetic defect, we performed a genome-wide scan for linkage using high-density SNP microarrays. A single, strong linkage peak was detected on chromosome 20p13, under an autosomal-dominant model, in the region of the RLS-5 locus (maximum multipoint LOD score 3.02). Haplotype analysis refined the RLS-5 critical region from 5.2 to 4.5 megabases. In conclusion, we provide the first confirmation of the RLS-5 locus, and we reduce its critical region. The identification of the underlying mutation might reveal an important susceptibility gene for this common movement disorder.

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Citations

May 20, 2011·Human Genetics·Philip M BooneJames R Lupski
Sep 23, 2014·Current Treatment Options in Neurology·William G Ondo
Jul 17, 2012·European Neurology·Hatice BalabanHamit Zafer Kars
Jul 1, 2014·Current Opinion in Neurology·Diego Garcia-Borreguero, Anne-Marie Williams

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