UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F19%3A10389257" target="_blank" >RIV/00216208:11130/19:10389257 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/19:10389257
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=lsNiY5dTt4" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=lsNiY5dTt4</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1055/s-0038-1676288" target="_blank" >10.1055/s-0038-1676288</a>
Alternative languages
Result language
angličtina
Original language name
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
Original language description
Introduction Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function and are frequently associated with seizures in different stages of the disease. Here we report a patient with severe progressive neurodegeneration with drug-resistant epilepsy of unknown etiology from the age of 2 years. Methods and Results Using whole exome sequencing, we found heterozygous missense de novo variant c.628G > A (p.Glu210Lys) in the UBTF gene. This variant was recently described as de novo in 11 patients with similar neurodegeneration characterized by developmental decline initially confined to motor development followed by language regression, appearance of an extrapyramidal movement disorder, and leading to severe intellectual disability. In 3 of the 11 patients described so far, seizures were also present. Conclusions Our report expands the complex phenotype of neurodegeneration associated with the c.628G > A variant in the UBTF gene and helps to clarify the relation between this one single recurrent pathogenic variant described in this gene to date and its phenotype. The UBTF gene should be considered a novel candidate gene in neurodegeneration with or without epilepsy.
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
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neuropediatrics
ISSN
0174-304X
e-ISSN
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Volume of the periodical
50
Issue of the periodical within the volume
1
Country of publishing house
DE - GERMANY
Number of pages
4
Pages from-to
57-60
UT code for WoS article
000458895700010
EID of the result in the Scopus database
2-s2.0-85060782747