Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Ann Clin Transl Neurol. 2021 Mar 6. doi: 10.1002/acn3.51335. Epub ahead of print. PMID: 33675180.
|Authors/Editors:||Dzinovic I, Škorvánek M, Pavelekova P, Zhao C, Keren B, Whalen S, Bakhtiari S, Chih Jin S, Kruer MC, Jech R, Winkelmann J, Zech M.|
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.