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

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Dzinovic, Ivana | Škorvánek, Matej | Pavelekova, Petra | Zhao, Chen | Keren, Boris | Whalen, Sandra | Bakhtiari, Somayeh | Chih Jin, Sheng | Kruer, Michael, C | Jech, Robert | Winkelmann, Juliane | Zech, Michael

Edité par CCSD ; Wiley -

International audience. 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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