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

doi:10.1002/acn3.51335

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

Chair of Neurogenetics (2015 — 2023)

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6 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 language	English
Pages (from-to)	951-955
Number of pages	5
Journal	Annals of Clinical and Translational Neurology
Volume	8
Issue number	4
DOIs	https://doi.org/10.1002/acn3.51335
State	Published - Apr 2021

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title = "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.",

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AU - Dzinovic, Ivana

AU - Škorvánek, Matej

AU - Pavelekova, Petra

AU - Zhao, Chen

AU - Keren, Boris

AU - Whalen, Sandra

AU - Bakhtiari, Somayeh

AU - Chih Jin, Sheng

AU - Kruer, Michael C.

AU - Jech, Robert

AU - Winkelmann, Juliane

AU - Zech, Michael

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

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