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

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

1. Genomic analysis identifies risk factors in restless legs syndrome;2023-12-20

2. Sleep Medicine in Canada;The Practice of Sleep Medicine Around The World: Challenges, Knowledge Gaps and Unique Needs;2023-03-01

3. The genetics of restless legs syndrome;Encyclopedia of Sleep and Circadian Rhythms;2023

4. Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry;Sleep;2022-04-29

5. Restless legs syndrome;Nature Reviews Disease Primers;2021-11-03

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3