Open AccessVariant recurrence confirms the existence of a FBXO31 ‐related spastic‐dystonic cerebral palsy syndrome
Author(s) -
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
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51335
Subject(s) - medicine , cerebral palsy , missense mutation , etiology , disease , phenotype , spastic , neurodevelopmental disorder , bioinformatics , spastic cerebral palsy , neuroscience , pathology , gene , genetics , physical medicine and rehabilitation , psychiatry , biology , autism
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.