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

Antonetta M G Sas, Alessio Di Fonzo, Stef L M Bakker, Erik J. Simons, Ben A. Oostra, Anneke J. Maat-Kievit, Agnita J W Boon, Vincenzo Bonifati

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1715-1722
Number of pages8
JournalMovement Disorders
Issue number11
Publication statusPublished - Aug 15 2010


  • Genetics
  • Linkage mapping
  • Restless legs syndrome
  • RLS
  • RLS-5

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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