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Possible Somatic Mosaicism of Novel Variant in Familial Amyotrophic Lateral Sclerosis.

作者信息

Hisahara Shin, Nishiyama Ayumi, Tsuda Emiko, Suzuki Syuuichirou, Matsumura Akihiro, Ishikawa Aki, Sakurai Akihiro, Motoike Ikuko N, Aoki Masashi, Aoki Yoko, Shimohama Shun

机构信息

Department of Neurology (S.H., S. Suzuki, A.M., S. Shimohama), School of Medicine, Sapporo Medical University, Japan; Department of Neurology (A.N., M.A.), Tohoku University School of Medicine, Sendai, Japan; Department of Neurology (E.T.), Sapporo Shirakabadai Hospital, Japan; Department of Medical Genetics and Genomics (A.I., A.S.), School of Medicine, Sapporo Medical University, Japan; Tohoku Medical Megabank Organization (I.N.M.), Tohoku University Graduate School of Information Sciences, Sendai, Japan; and Department of Medical Genetics (Y.A.), Tohoku University School of Medicine, Sendai, Japan.

出版信息

Neurol Genet. 2021 Jan 12;7(1):e552. doi: 10.1212/NXG.0000000000000552. eCollection 2021 Feb.

DOI:10.1212/NXG.0000000000000552
PMID:33987464
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8112850/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ec5/8112850/6b0a36874579/NG2020015289f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ec5/8112850/6b0a36874579/NG2020015289f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ec5/8112850/6b0a36874579/NG2020015289f1.jpg

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2
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.在三人体外显子组测序数据中，发育障碍患者的父母和儿童存在临床相关的合子后镶嵌现象。
Nat Commun. 2019 Jul 5;10(1):2985. doi: 10.1038/s41467-019-11059-2.
3
Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.
Genes (Basel). 2021 Jul 14;12(7):1071. doi: 10.3390/genes12071071.
4
Does Somatic Mosaicism Account for Some Sporadic ALS?体细胞镶嵌现象是否能解释某些散发性肌萎缩侧索硬化症？
Neurol Genet. 2021 Jan 12;7(1):e555. doi: 10.1212/NXG.0000000000000555. eCollection 2021 Feb.
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4
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5
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.C9orf72重复序列大小与疾病发病年龄、启动子的DNA甲基化及转录下调相关。
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