Publication
Title
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
Author
Institution/Organisation
BELNEU Consortium1
EU EOD Consortium
Abstract
We evaluated the genetic contribution of the T cellrestricted 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.
Language
English
Source (journal)
Neurobiology of aging. - Fayetteville, N.Y.
Neurobiology of aging. - Fayetteville, N.Y.
Publication
Fayetteville, N.Y. : 2018
ISSN
0197-4580
Volume/pages
69 (2018) , 3 p.
Article Reference
293.e9
ISI
000439651000034
Pubmed ID
29886022
Medium
E-only publicatie
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 16.07.2018
Last edited 20.09.2021
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