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	A novel 10-base pair insertion mutation in exon 5 of the sod1 gene in a chinese family with amyotrophic lateral sclerosis
	Chen, Siyu1; Li, Mao1; Zhu, Wenjia1; Mao, Fengbiao2,3; Wang, Jiesi2,3; Sun, Zhongsheng2,3; Huang, Xusheng1
刊名	Neurobiology of aging
	2016-09-01
卷号	45页码:4
关键词	Als Sod1 Insertion mutation
ISSN号	0197-4580
DOI	10.1016/j.neurobiolaging.2016.04.021
通讯作者	Sun, zhongsheng(zsunusa@yahoo.com) ; Huang, xusheng(lewish301@sina.com)
英文摘要	Amyotrophic lateral sclerosis (als) is an adult-onset, progressive, fatal neurodegenerative disease. several genes are associated with als. copper-zinc superoxide dismutase 1 (sod1) is one of the most commonly mutated genes in als, and more than 160 mutations in sod1 have been reported. we reported a novel heterozygous insertion mutation that led to a frameshift and a premature termination at position 136 in exon 5 of the sod1 gene (c.392_393insgcaaaggtgg; p.n132qfs*5) in a chinese familial als pedigree. this mutation in the pedigree demonstrated an autosomal dominant pattern of inheritance and a phenotype characterized by an early onset (approximately 34 years old) with a relatively rapid course (approximately 2 years) and limb onset with respiratory involvement. the clinical feature of the p.n132qfs*5 mutation was nearly identical to a previously reported mutation (gly127instggg). experiments in g127x mice demonstrated that the g127x mutation was pathogenic. sod1 activity in the p.n132qfs*5 mutation carriers in the family decreased significantly compared with normal family members. in conclusion, we identified a novel sod1 mutation in an als family, which is an important addition to the catalog of sod1 mutations in als. (c) 2016 elsevier inc. all rights reserved.
WOS关键词	SUPEROXIDE-DISMUTASE ; HEXANUCLEOTIDE REPEAT ; ALS ; HETEROGENEITY ; C9ORF72 ; FTD
WOS研究方向	Geriatrics & Gerontology ; Neurosciences & Neurology
WOS类目	Geriatrics & Gerontology ; Neurosciences
语种	英语
出版者	ELSEVIER SCIENCE INC
WOS记录号	WOS:000381092900022
内容类型	期刊论文
URI标识	http://www.corc.org.cn/handle/1471x/2374393
专题	中国科学院大学
通讯作者	Sun, Zhongsheng; Huang, Xusheng
作者单位	1.Chinese Peoples Liberat Army Gen Hosp, Dept Neurol, Beijing, Peoples R China 2.Chinese Acad Sci, Beijing Inst Life Sci, Beijing, Peoples R China 3.Univ Chinese Acad Sci, Beijing, Peoples R China
推荐引用方式 GB/T 7714	Chen, Siyu,Li, Mao,Zhu, Wenjia,et al. A novel 10-base pair insertion mutation in exon 5 of the sod1 gene in a chinese family with amyotrophic lateral sclerosis[J]. Neurobiology of aging,2016,45:4.
APA	Chen, Siyu.,Li, Mao.,Zhu, Wenjia.,Mao, Fengbiao.,Wang, Jiesi.,...&Huang, Xusheng.(2016).A novel 10-base pair insertion mutation in exon 5 of the sod1 gene in a chinese family with amyotrophic lateral sclerosis.Neurobiology of aging,45,4.
MLA	Chen, Siyu,et al."A novel 10-base pair insertion mutation in exon 5 of the sod1 gene in a chinese family with amyotrophic lateral sclerosis".Neurobiology of aging 45(2016):4.

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