Screening of the TBK1 gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.
TANK-binding kinase 1 (TBK1) has been recently identified as a risk gene of amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the contribution of TBK1 mutations to Chinese ALS patients. We sequenced the coding regions of TBK1 in a cohort of Chinese ALS patients, including 271 sporadic ALS patients and 23 familial ALS patients. Two potentially pathogenic mutations, L62P and I334T, were identified in two independent sporadic ALS patients, accounting for 0.7% of total ALS cases. Both mutations were absent from our 384 healthy controls and public single nucleotide polymorphisms databases. In conclusion, we propose that TBK1 is not a frequent causal gene in Chinese ALS patients.
a Neuroscience Centre, CAMS , Beijing.|b McKusick-Zhang Centre for Genetic Medicine , CAMS & PUMC , Beijing , and.
Shi
S
Shu
a Neuroscience Centre, CAMS , Beijing.|b McKusick-Zhang Centre for Genetic Medicine , CAMS & PUMC , Beijing , and.
Xiao Ling
XL
Li
a Neuroscience Centre, CAMS , Beijing.|c Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , China.
Qing
Q
Liu
a Neuroscience Centre, CAMS , Beijing.|b McKusick-Zhang Centre for Genetic Medicine , CAMS & PUMC , Beijing , and.
Fang
F
Liu
a Neuroscience Centre, CAMS , Beijing.|c Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , China.
Bo
B
Cui
a Neuroscience Centre, CAMS , Beijing.|c Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , China.
Ming Sheng
MS
Liu
a Neuroscience Centre, CAMS , Beijing.|c Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , China.
Li-Ying
LY
Cui
a Neuroscience Centre, CAMS , Beijing.|c Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , China.
Xiao Guang
XG
Li
a Neuroscience Centre, CAMS , Beijing.|b McKusick-Zhang Centre for Genetic Medicine , CAMS & PUMC , Beijing , and.|c Department of Neurology and Laboratory of Clinical Genetics , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (CAMS & PUMC) , Beijing , China.
Xue
X
Zhang
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors
D017346:Protein Serine-Threonine Kinases; C403191:TBK1 protein, human
TBK1; amyotrophic lateral sclerosis; genetic mutation; mainland Chinese population