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

Williams, Kelly L., McCann, Emily P., Fifita, Jennifer A., Zhang, Katharine, Duncan, Emma L., Leo, Paul J., Marshall, Mhairi, Rowe, Dominic B., Nicholson, Garth A., & Blair, Ian P. (2015) Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin. Neurobiology of Aging, 36(12), 3334.e1-3334.e5.

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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. © 2015 Elsevier Inc.

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3 citations in Web of Science®
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ID Code: 94202
Item Type: Journal Article
Refereed: Yes
Keywords: Amyotrophic lateral sclerosis, Frameshift, Gene, Motor neuron disease, Mutation, TBK1, carbamazepine, immunoglobulin enhancer binding protein, TRAF family member associated nuclear factor kappa b activator binding kinase 1, tumor necrosis factor receptor associated factor, unclassified drug, arm weakness, Article, Australian, bronchiectasis, Chinese, cognitive defect, complex partial seizure, controlled study, depression, exome, exon, familial disease, frameshift mutation, gene deletion, gene function, gene identification, gene mutation, gene segregation, haploinsufficiency, human, language delay, linkage analysis, major clinical study, missense mutation, muscle atrophy, muscle cramp, Parkinson disease, pneumonia, priority journal, single nucleotide polymorphism, spasticity, TBK1 gene, tremor, walking difficulty
DOI: 10.1016/j.neurobiolaging.2015.08.013
ISSN: 0197-4580
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2015 Elsevier Inc.
Deposited On: 23 Mar 2016 02:24
Last Modified: 23 Mar 2016 22:13

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