Association of a structural variant within the

Journal

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

Informations de publication

Date de publication:
Apr 2020
Historique:
received: 19 07 2019
accepted: 23 01 2020
entrez: 19 3 2020
pubmed: 19 3 2020
medline: 19 3 2020
Statut: epublish

Résumé

As structural variations may underpin susceptibility to complex neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), the objective of this study was to investigate a structural variant (SV) within sequestosome 1 ( A candidate insertion/deletion variant within intron 5 of the A reliable and robust assay confirmed the polymorphic nature of this variant and that the variant may influence This disease association highlights the importance and implications of further investigation into SVs that may provide new targets for cohort stratification and therapeutic development.

Identifiants

DOI: 10.1212/NXG.0000000000000406 PMID: 32185242 PMC: PMC7061286
pubmed: 32185242
doi: 10.1212/NXG.0000000000000406
pii: NG2019011502
pmc: PMC7061286
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e406

Informations de copyright

Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Julia Pytte (J)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.
ORCID: 0000-0002-1111-9432

Ryan S Anderton (RS)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Loren L Flynn (LL)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Frances Theunissen (F)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Leanne Jiang (L)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Ianthe Pitout (I)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Ian James (I)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Frank L Mastaglia (FL)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Ann M Saunders (AM)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Richard Bedlack (R)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Teepu Siddique (T)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Nailah Siddique (N)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

P Anthony Akkari (PA)

University of Western Australia (J.P., R.S.A., L.L.F., F.T., L.J., F.L.M., P.A.A.), Centre for Neuromuscular and Neurological Disorders, Crawley; Perron Institute for Neurological and Translational Science (J.P., R.S.A., L.L.F., F.T., L.J., I.P., F.L.M., P.A.A.), Nedlands; University of Notre Dame Australia (R.S.A.), School of Health Sciences; University of Notre Dame Australia (R.S.A.), Institute for Health Research, Fremantle; Murdoch University (L.L.F., I.P., P.A.A.), Centre for Molecular Medicine and Innovative Therapeutics; Murdoch University, Institute for Immunology and Infectious Diseases (I.J.), Western Australia, Australia; Department of Neurology (R.B.), Duke University School of Medicine, Durham, NC; Zinfandel Pharmaceuticals (A.M.S.), Inc.; Duke University (R.B.), ALS Clinic, Durham, NC; and Departments of Neurology, Pathology and Cell and Molecular Biology (T.S., N.S.), Northwestern University Feinberg School of Medicine, the Les Turner ALS Center and the Northwestern University Interdepartmental Neuroscience Program, Chicago, IL.

Classifications MeSH