Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort

Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)

研究成果: ジャーナルへの寄稿学術論文査読

54 被引用数 (Scopus)


We investigated the frequency and contribution of variants of the 28 known amyotrophic lateral sclerosis (ALS)-related genes in Japanese ALS patients. We designed a multiplex, polymerase chain reaction-based primer panel to amplify the coding regions of the 28 ALS-related genes and sequenced DNA samples from 257 Japanese ALS patients using an Ion Torrent PGM sequencer. We also performed exome sequencing and identified variants of the 28 genes in an additional 251 ALS patients using an Illumina HiSeq 2000 platform. We identified the known ALS pathogenic variants and predicted the functional properties of novel nonsynonymous variants in silico. These variants were confirmed by Sanger sequencing. Known pathogenic variants were identified in 19 (48.7%) of the 39 familial ALS patients and 14 (3.0%) of the 469 sporadic ALS patients. Thirty-two sporadic ALS patients (6.8%) harbored 1 or 2 novel nonsynonymous variants of ALS-related genes that might be deleterious. This study reports the first extensive genetic screening of Japanese ALS patients. These findings are useful for developing genetic screening and counseling strategies for such patients.

ジャーナルNeurobiology of Aging
出版ステータス出版済み - 01-03-2016

All Science Journal Classification (ASJC) codes

  • 臨床神経学
  • 老年医学
  • 加齢科学
  • 神経科学一般
  • 発生生物学


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