Questioning the Association of the

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Aug 2022
Historique:
received: 26 01 2022
accepted: 05 04 2022
entrez: 4 8 2022
pubmed: 5 8 2022
medline: 5 8 2022
Statut: epublish

Résumé

Recently, the number of dinucleotide CA repeats in an intron of the Here, we used whole-genome sequencing and tested the We find that repeats well above the previously reported pathogenic threshold of 19 are commonly observed in unaffected individuals across different populations. Furthermore, we did not observe an association between longer In summary, our results do not support a role of

Identifiants

DOI: 10.1212/NXG.0000000000000678 PMID: 35923349 PMC: PMC9342143
pubmed: 35923349
doi: 10.1212/NXG.0000000000000678
pii: NG2022017335
pmc: PMC9342143
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e678

Informations de copyright

Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Références

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Auteurs

Jay P Ross (JP)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.
ORCID: 0000-0002-8183-2524

Fulya Akçimen (F)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.
ORCID: 0000-0003-0931-5247

Calwing Liao (C)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.
ORCID: 0000-0001-6169-7137

Dan Spiegelman (D)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.

Ben Weisburd (B)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.
ORCID: 0000-0001-9898-9109

Nicolas Dupré (N)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.

Patrick A Dion (PA)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.

Guy A Rouleau (GA)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.

Sali M K Farhan (SMK)

Department of Human Genetics (J.P.R., F.A., C.L., G.A.R., S.M.K.F.), Montreal Neurological Institute and Hospital (J.P.R., F.A., C.L., D.S., P.A.D., G.A.R., S.M.K.F.), and Department of Neurology and Neurosurgery (D.S., P.A.D., G.A.R., S.M.K.F.), McGill University, Montréal, Quebec, Canada; Program in Medical and Population Genetics (B.W.), The Broad Institute of MIT and Harvard, Cambridge, MA; Division of Neurosciences (N.D.), CHU de Québec, Université Laval; and Department of Medicine (N.D.), Faculty of Medicine, Université Laval, Québec City, Canada.

Classifications MeSH