No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
Baradaran-Heravi, Yalda (University of Antwerp)
Dillen, Lubina (University of Antwerp)
Nguyen, Hung Phuoc (University of Antwerp)
Van Mossevelde, Sara (Antwerp University Hospital (UZA))
Baets, Jonathan (VIB-UAntwerp Center for Molecular Neurology)
De Jonghe, Peter (VIB-UAntwerp Center for Molecular Neurology)
Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA))
De Deyn, Peter Paul (Hospital Network Antwerp (ZNA))
Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica))
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica))
Van Damme, Philip (VIB)
Cras, Patrick (Antwerp University Hospital (UZA))
Salmon, Eric (University of Liege and Memory Clinic)
Synofzik, Matthis (German Center for Neurodegenerative Diseases (DZNE))
Heutink, Peter (German Center for Neurodegenerative Diseases (DZNE))
Wilke, Carlo (German Center for Neurodegenerative Diseases (DZNE))
Simón Sánchez, Javier (German Center for Neurodegenerative Diseases (DZNE))
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau)
Turon-Sans, Janina (Institut d'Investigació Biomèdica Sant Pau)
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau)
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau)
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Borroni, Barbara (University of Brescia)
Padovani, Alessandro (University of Brescia)
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya))
Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya))
Aguilar, Miquel Chávez (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya))
Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona)
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona)
Borrego-Écija, Sergi (Hospital Clínic i Provincial de Barcelona)
Matej, Radoslav (Charles University)
Parobkova, Eva (Charles University)
Nacmias, Benedetta (University of Florence)
Sorbi, Sandro (IRCCS Don Gnocchi)
Bagnoli, Silvia (University of Florence)
de Mendonça, Alexandre (University of Lisbon)
Ferreira, Catarina B. (University of Lisbon)
Fraidakis, Matthew Joseph (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics)
Diehl-Schmid, Janine (Technische Universität München)
Alexopoulos, Panagiotis (Technische Universität München)
Almeida, Maria (University of Coimbra)
Santana, Isabel (University of Coimbra)
Van Broeckhoven, Christine (University of Antwerp)
Van der Zee, Julie (University of Antwerp)
Goeman, Johan (BELNEU Consortium)
Nuytten, Dirk (BELNEU Consortium)
Sieben, Anne (BELNEU Consortium)
De Bleecker, Jan L. (BELNEU Consortium)
Santens, Patrick (BELNEU Consortium)
Versijpt, Jan (BELNEU Consortium)
Michotte, Alex (BELNEU Consortium)
Ivanoiu, Adrian (BELNEU Consortium)
Deryck, Olivier (BELNEU Consortium)
Bergmans, Bruno (BELNEU Consortium)
Willems, Christiana (BELNEU Consortium)
De Klippel, Nina (BELNEU Consortium)
Peeters, Dirk (BELNEU Consortium)
Archettim, Silvana (EU EOD Consortium)
Bonomi, Elisa (EU EOD Consortium)
Piaceri, Irene (EU EOD Consortium)
Ferrari, Camilla (EU EOD Consortium)
Simões do Couto, Federico (EU EOD Consortium)
Verdelho, Ana (EU EOD Consortium)
Miltenberger-Miltényi, Gabriel (EU EOD Consortium)
Universitat Autònoma de Barcelona

Date:	2018
Abstract:	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.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Published in:	Neurobiology of Aging, Vol. 69 (september 2018) , p. 293.e9-293.e11, ISSN 1558-1497

DOI: 10.1016/j.neurobiolaging.2018.05.005
PMID: 29886022

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