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Dzinovic, I. ; Škorvánek, M.* ; Pavelekova, P.* ; Zhao, C. ; Keren, B.* ; Whalen, S.* ; Bakhtiari, S.* ; Chih Jin, S.* ; Kruer, M.C.* ; Jech, R.* ; Winkelmann, J. ; Zech, M.

Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.

Ann. Clin. Transl. Neurol. 8, 951-955 (2021)
Publ. Version/Full Text DOI PMC
Open Access Gold
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The role of genetics in the causation of cerebral palsy has become the focus of many studies aiming to unravel the heterogeneous etiology behind this frequent neurodevelopmental disorder. A recent paper reported two unrelated children with a clinical diagnosis of cerebral palsy, who carried the same de novo c.1000G > A (p.Asp334Asn) variant in FBXO31, encoding a widely studied tumor suppressor not previously implicated in monogenic disease. We now identified a third individual with the recurrent FBXO31 de novo missense variant, featuring a spastic-dystonic phenotype. Our data confirm a link between variant FBXO31 and an autosomal dominant neurodevelopmental disorder characterized by prominent motor dysfunction.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Journal Annals of Clinical and Translational Neurology
Quellenangaben Volume: 8, Issue: 4, Pages: 951-955 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Chichester [u.a.]
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants Czech Ministry of Education
Charles University
Technical University
Helmholtz Center Munich
Slovak Grant and Development Agency