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.

Department of Genetics Pitié Salpêtrière Hospital APHP Sorbonne Université Paris France

Department of Genetics Washington University School of Medicine St Louis Missouri USA

Department of Neurology Charles University 1st Faculty of Medicine General University Hospital Prague Czech Republic

Department of Neurology P J Safarik University Kosice Slovak Republic

Department of Neurology University Hospital of L Pasteur Kosice Slovak Republic

Departments of Child Health Neurology and Cellular and Molecular Medicine and Program in Genetics University of Arizona College of Medicine Phoenix Phoenix Arizona USA

Institute of Human Genetics Technical University of Munich Munich Germany

Institute of Neurogenomics Helmholtz Zentrum München Munich Germany

Lehrstuhl für Neurogenetik Technische Universität München Munich Germany

Munich Cluster for Systems Neurology SyNergy Munich Germany

Pediatric Movement Disorders Program Division of Pediatric Neurology Barrow Neurological Institute Phoenix Children's Hospital Phoenix Arizona USA

UF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs APHP Sorbonne Université Hôpital Armand Trousseau Paris France

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