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Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Ann. Clin. Transl. Neurol. 8, 951-955 (2021)
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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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
ISSN (print) / ISBN
2328-9503
e-ISSN
2328-9503
Zeitschrift
Annals of Clinical and Translational Neurology
Quellenangaben
Band: 8,
Heft: 4,
Seiten: 951-955
Verlag
Wiley
Verlagsort
Chichester [u.a.]
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
Czech Ministry of Education
Charles University
Technical University
Helmholtz Center Munich
Slovak Grant and Development Agency
Charles University
Technical University
Helmholtz Center Munich
Slovak Grant and Development Agency