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

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

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish
Pages (from-to)951-955
Number of pages5
JournalAnnals of Clinical and Translational Neurology
Volume8
Issue number4
DOIs
StatePublished - Apr 2021

Fingerprint

Dive into the research topics of 'Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome'. Together they form a unique fingerprint.

Cite this