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.

• MeSH
• Child MeSH
• Dystonia etiology   genetics   physiopathology   MeSH
• F-Box Proteins genetics   MeSH
• Humans MeSH
• Cerebral Palsy complications   genetics   physiopathology   MeSH
• Tumor Suppressor Proteins genetics   MeSH
• Muscle Spasticity etiology   genetics   physiopathology   MeSH
• Syndrome MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH
• Names of Substances
• F-Box Proteins MeSH
• FBXO31 protein, human MeSH Browser
• Tumor Suppressor Proteins MeSH