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. and 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. doi:10.1016/j.neurobiolaging.2015.08.013

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Author 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.
Title Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin
Journal name Neurobiology of Aging   Check publisher's open access policy
ISSN 1558-1497
0197-4580
Publication date 2015-08-18
Year available 2015
Sub-type Article (original research)
DOI 10.1016/j.neurobiolaging.2015.08.013
Open Access Status File (Author Post-print)
Volume 36
Issue 12
Start page 3334.e1
End page 3334.e5
Total pages 5
Place of publication Philadelphia, Pennsylvania, United States
Publisher Elsevier
Collection year 2016
Language eng
Formatted 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.
Keyword Amyotrophic lateral sclerosis
Motor neuron disease
TBK1
Gene
Mutation
Frameshift
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
School of Medicine Publications
UQ Diamantina Institute Publications
 
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