title: TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis.
abstract: Recently, several TARDBP mutations have been identified in sporadic amyotrophic lateral sclerosis (SALS) patients among different ethnicities. Our study aims to analyze the clinical features and mutations in the TARDBP gene among Chinese patients with SALS. One hundred sixty-five patients were studied. The mean age of onset was 50.8±12.0 years. The mean diagnostic delay was 18.8±17.1 months. A novel missense mutation (p.N378S) and a novel silent change (p.A321A) were detected in 2 male patients, respectively. A new variant of c.1098C>G in exon 6 and 2 reported variants, g.IVS1+85C>T in intron 1 and c.57A>G in exon 2, were found. The frequency of the "G" variant of c.57A>G in exon 2 and the "G" variant of c.1098C>G in exon 6 were significantly lower in the patient group than in the control (p=0.001 and p=0.024, respectively). Our findings provide first evidence that the frequency of TARDBP gene mutations is rare among Chinese SALS patients (0.61%). Several polymorphisms may influence susceptibility to amyotrophic lateral sclerosis.
authors: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: Rui
authors: R
authors: Huang
authors: Deng-Fu
authors: DF
authors: Fang
authors: Ming-Yi
authors: MY
authors: Ma
authors: Xiao-Yan
authors: XY
authors: Guo
authors: Bi
authors: B
authors: Zhao
authors: Yan
authors: Y
authors: Zeng
authors: Dong
authors: D
authors: Zhou
authors: Yuan
authors: Y
authors: Yang
authors: Hui-Fang
authors: HF
authors: Shang
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins