Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q

Am J Hum Genet. 2001 Dec;69(6):1266-70. doi: 10.1086/324649. Epub 2001 Nov 6.


Restless legs syndrome (RLS) is a neurological disorder characterized by leg paresthesia associated with an irresistible urge to move that often interferes with nocturnal sleep, leading to chronic sleep deprivation. To map genes that may play a role in the vulnerability to RLS, a genomewide scan was conducted in a large French-Canadian family. Significant linkage was established on chromosome 12q, for a series of adjacent microsatellite markers with a maximum two-point LOD score of 3.42 (recombination fraction.05; P=6x10(-4); autosomal recessive mode of inheritance), whereas multipoint linkage calculations yielded a LOD score of 3.59. Haplotype analysis refined the genetic interval, positioning the RLS-predisposing gene in a 14.71-cM region between D12S1044 and D12S78. These findings represent the first mapping of a locus conferring susceptibility to RLS.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Canada
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12 / genetics*
  • Female
  • France / ethnology
  • Gene Frequency / genetics
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Predisposition to Disease / genetics*
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Models, Genetic
  • Pedigree
  • Penetrance
  • Restless Legs Syndrome / genetics*