@article{ca0434f0ac0f4924b0624a505dc6c079,
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.",
author = "Ivana Dzinovic and Matej {\v S}korv{\'a}nek and Petra Pavelekova and Chen Zhao and Boris Keren and Sandra Whalen and Somayeh Bakhtiari and {Chih Jin}, Sheng and Kruer, {Michael C.} and Robert Jech and Juliane Winkelmann and Michael Zech",
note = "Funding Information: This work was supported by the Slovak Grant and Development Agency under contract APVV‐18‐0547 and the Operational Programme Integrated Infrastructure, funded by the ERDF under No. ITMS2014+: 313011V455 to MS. The study was also supported by in‐house institutional funding from Helmholtz Center Munich, Munich, Germany, Technical University of Munich, Munich, Germany, and Charles University, Prague, Czech Republic (PROGRES Q27). This study was also funded by the Czech Ministry of Education under grant AZV: NV19‐04‐00233 and under the frame of EJP RD, the European Joint Programme on Rare Diseases (EJP RD COFUND‐EJP No 825575). Publisher Copyright: {\textcopyright} 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association",
year = "2021",
month = apr,
doi = "10.1002/acn3.51335",
language = "English",
volume = "8",
pages = "951--955",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
number = "4",
}