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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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • 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