title: Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.
abstract: 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.
authors.affiliation: Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal and Centre de recherche en sciences neurologiques, Université de Montréal, Montréal, Québec, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Desautels
authors.forename: G
authors.initials: G
authors.lastname: Turecki
authors.forename: J
authors.initials: J
authors.lastname: Montplaisir
authors.forename: A
authors.initials: A
authors.lastname: Sequeira
authors.forename: A
authors.initials: A
authors.lastname: Verner
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D002170:Canada; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D005602:France / Q000208:ethnology; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008957:Models, Genetic; D010375:Pedigree; D019683:Penetrance; D012148:Restless Legs Syndrome / Q000235:genetics*