Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis

PLoS One. 2013 Jul 9;8(7):e68106. doi: 10.1371/journal.pone.0068106. Print 2013.


Mutations in the TARDBP gene, which encodes the Tar DNA binding protein, have been shown to causes of both familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS). Recently, several novel TARDBP exon 6 mutants have been reported in patients with ALS in Europe and America but not in Asia. To further examine the spectrum and frequency of TARDBP exon 6 mutations, we investigated their frequency in ethnic Chinese patients with sporadic ALS. TARDBP exon 6 was screened by direct sequencing in 207 non-SOD1 SALS patients and 230 unrelated healthy controls but no mutations were identified. Our data indicate that exon 6 mutations in TARDBP are not a common cause of SALS in Han Chinese population from Southern Mainland China.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis / genetics*
  • Asians / genetics*
  • China
  • DNA-Binding Proteins / genetics*
  • Exons*
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Middle Aged
  • Mutation*


  • DNA-Binding Proteins

Grant support

This study was supported by grants from the National Key Clinical Department, National Key Discipline and Guangdong Key Laboratory For Diagnosis And Treatment of Major Neurological Diseases. This study was supported by the grants from the National Natural Science Foundation of China (number 81100936), the National Key New Drug Creation Program (2009ZX09103-039), the Key Scientific and Technological Projects of Guangdong Province (2010B050700024, 2012B031800107), and the Natural Science Foundation of Guangdong Province(S2011010004860). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.