Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis

Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)

研究成果: Article査読

1 被引用数 (Scopus)

抄録

DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to determine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis. In total, we detected six rare missense variants and one splice-site variant of the DNAJC7 gene, which are not reported in the Japanese public database. Furthermore, the missense variants are located around the TPR domain, which is important for the function of DNAJC7. The total frequency of the DNAJC7 variants in Japanese ALS patients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS.

本文言語English
ページ(範囲)131-136
ページ数6
ジャーナルNeurobiology of Aging
113
DOI
出版ステータスPublished - 05-2022

All Science Journal Classification (ASJC) codes

  • 神経科学(全般)
  • 加齢科学
  • 発生生物学
  • 臨床神経学
  • 老年医学

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