法裔加拿大人家族中新型不宁腿综合征相关基因的筛查
Screening of novel restless legs syndrome-associated genes in French-Canadian families.
作者信息
Akçimen Fulya, Spiegelman Dan, Dionne-Laporte Alexandre, Gan-Or Ziv, Dion Patrick A, Rouleau Guy A
机构信息
Department of Human Genetics (F.A., Z.G.-O., G.A.R.), McGill University; Montreal Neurological Institute (F.A., D.S., A.D.-L., Z.G.-O., P.A.D., G.A.R.), McGill University; and Department of Neurology and Neurosurgery (Z.G.-O., P.A.D., G.A.R.), McGill University, Montréal, Quebec, Canada.
出版信息
Neurol Genet. 2018 Dec 20;4(6):e296. doi: 10.1212/NXG.0000000000000296. eCollection 2018 Dec.
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.
目的
在法裔加拿大人家族性病例中，检测能否在最近确定的13个不宁腿综合征（RLS）基因座中鉴定出任何罕见的、导致蛋白质改变的变异。
方法
检查来自7个法裔加拿大大家庭（每个家庭有4 - 8名患者，共38例）的全外显子序列，以寻找每个基因座两侧1 Mb范围内任何基因中的变异。
结果
在鉴定出的43个罕见的导致蛋白质改变的变异中，没有一个在家族中与RLS共分离。
结论
我们的研究不支持位于先前或新确定的RLS基因座中的基因中存在导致蛋白质改变的致病性变异。因此，这些基因座内的非编码调控变异或尚未确定的基因座可能是我们家族中RLS的病因。
Zotero 插件