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TBK1Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

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van der Zee, Julie Gijselinck, Ilse Van Mossevelde, Sara Perrone, Federica Dillen, Lubina Ivanoiu, Adrian [UCL] Testi, Silvia

(eng) We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. We assessed pathogenicity of predicted protein-truncating mutations by measuring loss of RNA expression. Functional effect of in-frame amino acid deletions and missense mutations was further explored in vivo on protein level and in vitro by an NFκB-induced luciferase reporter assay and measuring phosphorylated TBK1. The protein-truncating mutations led to the loss of transcript through nonsense-mediated mRNA decay. For the in-frame amino acid deletions, we demonstrated loss of TBK1 or phosphorylated TBK1 protein. An important fraction of the missense mutations compromised NFκB activation indicating that at least some functions of TBK1 are lost. Although missense mutations were also present in controls, over three times more mutations affecting TBK1 functioning were found in the mutation fraction observed in patients only, suggesting high-risk alleles (P = 0.03). Total mutation frequency for confirmed TBK1 LoF mutations in the European cohort was 0.7%, with frequencies in the clinical subgroups of 0.4% in FTD, 1.3% in ALS, and 3.6% in FTD-ALS.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2017
Language Anglais
Journal information "Human Mutation" - Vol. 38, no. 3, p. 297-309 (2017)
Peer reviewed yes
Publisher Wiley-Liss ((United States) New York, NY)
issn 1059-7794
e-issn 1098-1004
Publication status Publié
Affiliations UCL - SSS/IONS/NEUR - Clinical Neuroscience
UCL - (SLuc) Service de neurologie
Keywords ALS ; FTD ; NFκB luciferase reporter assay ; TANK-Binding Kinase 1 ; TBK1 ; amyotrophic lateral sclerosis ; frontotemporal dementia ; mutations
Links
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Bibliographic reference van der Zee, Julie ; Gijselinck, Ilse ; Van Mossevelde, Sara ; Perrone, Federica ; Dillen, Lubina ; et. al. TBK1Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. In: Human Mutation, Vol. 38, no. 3, p. 297-309 (2017)
Permanent URL http://hdl.handle.net/2078.1/185551