Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis
Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis
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DOI：
10.1016/j.neurobiolaging.2021.12.002
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发表时间：
2022-04-18
影响因子：
4.2
通讯作者：
Sobue, Gen
中科院分区：
文献类型：
--
作者：
Tohnai, Genki;Nakamura, Ryoichi;Sobue, Gen
DNAJC 7最近通过大规模外显子组分析被鉴定为肌萎缩侧索硬化症（ALS）基因，并且其在各种人群中的参与仍然不清楚。本研究旨在确定日本ALS队列中DNAJC 7变异体的频率和特征。通过外显子组分析，共筛选了807例与散发性ALS无关的日本患者。总的来说，我们检测到六个罕见的错义变异和一个剪接位点变异的DNAJC 7基因，这是没有报告在日本公共数据库。此外，错义变体位于TPR结构域周围，这对DNAJC 7的功能很重要。DNAJC 7变异体在日本ALS患者中的总频率估计为0.87%。总的来说，这些结果表明，DNAJC 7的变体是日本散发性ALS患者的罕见原因。(c)2021爱思唯尔公司All rights reserved.
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 deter-mine 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 pa-tients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS.(c) 2021 Elsevier Inc. All rights reserved.