Progressive Ataxia and Neurologic Regression in

Journal

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

Informations de publication

Date de publication:
Jun 2021
Historique:
received: 08 12 2020
accepted: 17 02 2021
entrez: 15 4 2021
pubmed: 16 4 2021
medline: 16 4 2021
Statut: epublish

Résumé

To identify the genetic cause of a late-onset immunodeficiency and subacute progressive neurodegenerative disease affecting cognition, motor, visual, and cerebellar systems in a patient with a family history of 2 younger siblings with an early-onset immunodeficiency disease. Physical examinations, immunologic, brain MRI, whole-exome sequencing, and segregation studies were used to identify the genetic and neuroimmunologic etiology of disease in this family. We identified a homozygous loss-of-function (LOF) mutation (c.271+1G>C) in the In addition to BLS type II, our study has expanded and further characterized the phenotype associated with the LOF of

Identifiants

DOI: 10.1212/NXG.0000000000000586 PMID: 33855173 PMC: PMC8042776
pubmed: 33855173
doi: 10.1212/NXG.0000000000000586
pii: NG2020016857
pmc: PMC8042776
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e586

Informations de copyright

Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Essa Alharby (E)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Mona Obaid (M)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Mohammed A O Elamin (MAO)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Makki Almuntashri (M)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Ismail Bakhsh (I)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Manar Samman (M)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Roy W A Peake (RWA)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Ali Alasmari (A)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Naif A M Almontashiri (NAM)

Center for Genetics and Inherited Diseases (E.A., N.A.M.A.), and Faculty of Applied Medical Sciences (N.A.M.A.), Taibah University, Almadinah Almunwarah; Department of Adults Neurology (M.O.), National Neuroscience Institute, King Fahad Medical City; Section of Medical Genetics (M.A.O.E.), Childrens Specialist Hospital, King Fahad Medical City; Department of Medical Imaging in King Abdulaziz Medical City (M.A.), King Saud Ibn Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center; Pathology and Clinical Laboratory Medicine Administration (I.B.), King Fahad Medical City; Molecular Pathology (M.S.), Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia; Department of Laboratory Medicine (R.W.A.P.), Boston Childrens Hospital, MA; Section of Medical Genetics (A.A.), Childrens Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Classifications MeSH