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Roos, A.* ; Häusler, M.* ; Kollipara, L.* ; Töpf, A.* ; Preusse, C.* ; Stucka, R.* ; Nolte, K.W.* ; Strom, T.* ; Berutti, R. ; Jiang, X.* ; Koll, R.* ; Lochmüller, H.* ; Schacht, S.M.* ; Zahedi, R.P.* ; Weis, J.* ; Senderek, J.*

HNRNPA1 de novo variant associated with early childhood onset, rapidly progressive generalized myopathy.

J. Neuromuscul. Dis. 11, 1131-1137 (2024)
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HNRNPA1 variants are known to cause degenerative motoneuron and muscle diseases which manifests in middle age or later. We report on a girl with early childhood onset, rapidly progressive generalized myopathy including ultrastructural findings in line with a proteinopathy. Proteomics of patient-derived muscle and combined screening of genomic data for copy number variations identified a HNRNPA1 de novo intragenic deletion as causative for the phenotype. Our report expands the spectrum of HNRNPA1-related diseases towards early-childhood onset and adds HNRNPA1 to the growing list of ALS and myopathy genes for which certain mutations may cause severe pediatric phenotypes.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Inclusion Body Myopathy ; Multisystem Proteinopathy ; Muscle Proteomics ; Neuromyopathy ; Proteogenomics ; Vacuolar Myopathy; Prion-like Domains; Proteins
Language english
Publication Year 2024
HGF-reported in Year 2024
ISSN (print) / ISBN 2214-3599
e-ISSN 2214-3602
Journal Journal of neuromuscular diseases
Quellenangaben Volume: 11, Issue: 5, Pages: 1131-1137 Article Number: , Supplement: ,
Publisher IOS Press
Publishing Place Amsterdam
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503292-001
Grants BMBF
Federal Ministry of Education and Research, Germany (BMBF)
Canadian Insti-tutes of Health Research (CIHR) for Foundation
Canada Foundation for Innovation
Canada Research Chairs program (Canada Research Chair in Neu-romuscular Genomics and Health)
European Commission
Canada Research Coordinating Committee New Frontiers in Research Fund
Government of Canada Canada First Research Excellence Fund (CFREF)
Fritz-Thyssen-Stiftung
des Nordrhein-Westfalen
DOI 10.3233/JND-240050
WOS ID 001411212600018
Scopus ID 85203476030
PubMed ID 39121134
Erfassungsdatum 2024-09-27
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