No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F18%3A43916859" target="_blank" >RIV/00216208:11120/18:43916859 - isvavai.cz</a>
Alternative codes found
RIV/00064190:_____/18:N0000015
Result on the web
<a href="https://doi.org/10.1016/j.neurobiolaging.2018.05.005" target="_blank" >https://doi.org/10.1016/j.neurobiolaging.2018.05.005</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.005" target="_blank" >10.1016/j.neurobiolaging.2018.05.005</a>
Alternative languages
Result language
angličtina
Original language name
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
Original language description
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total 5 rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only 1 missense variant, p.Met290Thr, identified in a familial FTD patient with disease onset at 64 years, was absent from controls yet received a combined annotation-dependent depletion score of 11.42. By contrast, 3 of the 4 variants also detected in unaffected controls, p.Val294Glu, p.Gln318Arg, and p.Ala381Thr, had combined annotation-dependent depletion scores greater than 20. Our findings in a large European patient-control series indicate that variants in TIA1 are not a common cause of ALS and FTD. The observation of recurring TIA1 missense variants in unaffected individuals lead us to conclude that the exact genetic contribution of TIA1 to ALS and FTD pathogenesis remains to be further elucidated.
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
30210 - Clinical neurology
Result continuities
Project
—
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neurobiology of Aging
ISSN
0197-4580
e-ISSN
—
Volume of the periodical
69
Issue of the periodical within the volume
September
Country of publishing house
US - UNITED STATES
Number of pages
3
Pages from-to
"293.e9"-"293.e11"
UT code for WoS article
000439651000034
EID of the result in the Scopus database
2-s2.0-85048725744