Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10426456" target="_blank" >RIV/00216208:11110/21:10426456 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/21:10426456
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=9yatW0kB5x" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=9yatW0kB5x</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/acn3.51335" target="_blank" >10.1002/acn3.51335</a>
Alternative languages
Result language
angličtina
Original language name
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/NV19-04-00233" target="_blank" >NV19-04-00233: Clinical, Imaging and Biological predictors of effects associated with deep brain stimulation in Parkinson’s disease</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Annals of Clinical and Translational Neurology [online]
ISSN
2328-9503
e-ISSN
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Volume of the periodical
8
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
951-955
UT code for WoS article
000625735700001
EID of the result in the Scopus database
2-s2.0-85102075574