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

ABSTRACT: 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.

SUBMITTER: Dzinovic I 

PROVIDER: S-EPMC8045898 | biostudies-literature |

REPOSITORIES: biostudies-literature