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

Mov Disord. 2010 Aug 15;25(11):1715-22. doi: 10.1002/mds.23248.

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.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 20 / genetics*
  • Female
  • Gene Expression Profiling / methods
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Oligonucleotide Array Sequence Analysis / methods
  • Pedigree
  • Restless Legs Syndrome / genetics*
  • Young Adult