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Screening of novel restless legs syndrome-associated genes in French-Canadian families.

ABSTRACT: Objective:To examine whether any rare, protein-altering variants could be identified across 13 recently identified restless legs syndrome (RLS) loci in familial French-Canadian cases. Methods:Whole-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. Results:Among the 43 rare protein-altering variants identified, none segregated with RLS in the families. Conclusions:Our 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.

SUBMITTER: Akcimen F

PROVIDER: S-EPMC6305992 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Screening of novel restless legs syndrome-associated genes in French-Canadian families.

Akçimen Fulya F Spiegelman Dan D Dionne-Laporte Alexandre A Gan-Or Ziv Z Dion Patrick A PA Rouleau Guy A GA

Neurology. Genetics 20181220 6

<h4>Objective</h4>To examine whether any rare, protein-altering variants could be identified across 13 recently identified restless legs syndrome (RLS) loci in familial French-Canadian cases.<h4>Methods</h4>Whole-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.<h4>Results</h4>Among the 43 rare protein-altering variants identified, none segregated with R ...[more]

PMID: 30637332

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