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Krygier, M.* ; Sorrentino, U. ; Wagner, M. ; Zawadzka, M.* ; Lemska, A.* ; Mazurkiewicz-Bełdzińska, M.* ; Zech, M.

Prominent movement disorders in RNU2-2-related spliceosomopathy.

Ann. Clin. Transl. Neurol., DOI: 10.1002/acn3.70442 (2026)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed "RNUopathies." We analyzed genome sequencing data from 14 patients with undiagnosed pediatric movement disorders for pathogenic variants in snRNA genes. We identified recurrent de novo RNU2-2 variants (n.35A > G and n.4G > A) in two patients with intellectual disability, epilepsy, and hyperkinetic movement disorders. RNA sequencing of fibroblasts in one patient showed no characteristic transcriptomic signature. Spliceosomopathies should be considered in neurodevelopmental disorders and developmental and epileptic encephalopathies with hyperkinetic features.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Rnu2‐2 ; Rnuopathies ; Developmental And Epileptic Encephalopathy ; Movement Disorders ; Neurodevelopmental Disorders; Mutation
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Zeitschrift Annals of Clinical and Translational Neurology
Verlag Wiley
Verlagsort Chichester [u.a.]
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen Federal Government and the Länder