Author:
Akçimen Fulya,Spiegelman Dan,Dionne-Laporte Alexandre,Gan-Or Ziv,Dion Patrick A.,Rouleau Guy A.
Abstract
ObjectiveTo examine whether any rare, protein-altering variants could be identified across 13 recently identified restless legs syndrome (RLS) loci in familial French-Canadian cases.MethodsWhole-exome sequences from 7 large French-Canadian families (4–8 affected per family for a total of 38 cases) were examined for variants in any genes located within 1 Mb on either side of each locus.ResultsAmong the 43 rare protein-altering variants identified, none segregated with RLS in the families.ConclusionsOur study does not support a role for causative protein-altering variants in the genes that are located either in the previously or newly identified RLS loci. It is therefore possible that noncoding regulatory variants within these loci or yet unidentified loci could be the cause of RLS in our families.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics(clinical),Clinical Neurology
Cited by
7 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献