Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin

Neurobiology of Aging
K L WilliamsI P Blair

Abstract

Missense and frameshift mutations in TRAF family member-associated NF-kappa-B activator (TANK)-binding kinase 1 (TBK1) have been reported in European sporadic and familial amyotrophic lateral sclerosis (ALS) cohorts. To assess the role of TBK1 in ALS patient cohorts of wider ancestry, we have analyzed whole-exome sequence data from an Australian cohort of familial ALS (FALS) patients and controls. We identified a novel TBK1 deletion (c.1197delC) in a FALS patient of Chinese origin. This frameshift mutation (p.L399fs) likely results in a truncated protein that lacks functional domains required for adapter protein binding, as well as protein activation and structural integrity. No novel or reported TBK1 mutations were identified in FALS patients of European ancestry. This is the first report of a TBK1 mutation in an ALS patient of Asian origin and indicates that sequence variations in TBK1 are a rare cause of FALS in Australia.

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Citations

Jan 19, 2016·Brain Pathology·Mario SabatelliSerena Lattante
Apr 27, 2016·Current Neurology and Neuroscience Reports·Martine TherrienGuy A Rouleau
May 12, 2016·Ageing Research Reviews·Julia K GötzlAnja Capell
May 24, 2016·Trends in Molecular Medicine·Liyana AhmadVanessa Sancho-Shimizu
May 29, 2016·Progress in Neurobiology·Mónica ZufiríaAdolfo López de Munain
Jun 9, 2016·Expert Review of Molecular Diagnostics·H BlascoP Corcia
Aug 19, 2016·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Jennifer A FifitaIan P Blair
Nov 6, 2017·Journal of Alzheimer's Disease : JAD·Irene PiaceriBenedetta Nacmias
Jan 24, 2019·Molecular Genetics & Genomic Medicine·Huiling YuJian-Jun Wu
Aug 19, 2016·Current Opinion in Neurology·Matthew A White, Jemeen Sreedharan
Feb 6, 2017·Molecular Brain·James A OakesMark O Collins
May 20, 2018·Nature Reviews. Neurology·Sara Van MosseveldeChristine Van Broeckhoven
Apr 15, 2017·F1000Research·Sarah MartinAmmar Al-Chalabi
May 10, 2021·The Journal of Biological Chemistry·Measho H AbrehaNicholas T Seyfried

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