title: Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.
abstract: TAR DNA-binding protein (TARDBP) mutations have been reported in patients with amyotrophic lateral sclerosis (ALS) in different populations. Only a few studies have screened for TARDBP mutations in Chinese populations. Here, we sequenced the coding region of all five TARDBP exons for mutations in 13 familial ALS (FALS) pedigrees and 312 sporadic ALS (SALS) patients of Chinese origin, as well as 245 healthy control subjects. Two heterozygous missense mutations, c.875G>A (p.S292N) and c.1043G>T (p.G348V), were identified in two and one SALS patients, respectively. One synonymous substitution, c.1098C>G (p.A366A), was identified in two SALS patients. None of the substitutions were found in healthy control subjects. In Chinese populations, the estimated frequency of TARDBP mutations in SALS patients (0.73%) is higher than Japanese and lower than White populations, whereas the estimated mutation frequency in superoxide dismutase 1 (SOD1)-negative FALS patients (15.2%) is higher than both Japanese and White populations. Our findings provide an overview of the occurrence of TARDBP mutations in Chinese ALS patients and highlight the importance of TARDBP mutation screening in Chinese ALS patients.
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Zhang-Yu
authors.initials: ZY
authors.lastname: Zou
authors.forename: Yu
authors.initials: Y
authors.lastname: Peng
authors.forename: Xin-Ning
authors.initials: XN
authors.lastname: Wang
authors.forename: Ming-Sheng
authors.initials: MS
authors.lastname: Liu
authors.forename: Xiao-Guang
authors.initials: XG
authors.lastname: Li
authors.forename: Li-Ying
authors.initials: LY
authors.lastname: Cui
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins