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学科主题: 临床医学
题名:
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China
作者: Zhang, HG; Zhao, HS; Lu, M; Zhang, YS; Wang, LP; Zhang, J; Ma, D; Fan, DS
关键词: amyotrophic lateral sclerosis ; Cu/Zn superoxide dismutase ; Chinese kindred
刊名: AMYOTROPHIC LATERAL SCLEROSIS
发表日期: 2005-12-01
DOI: 10.1080/14660820510044478
卷: 6, 期:4, 页:234-238
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: GENE-MUTATIONS ; IDENTIFICATION ; DEFECTS ; DISEASE
英文摘要:

More than 100 mutations in the Cu/Zn superoxide dismutase ( SOD) gene have been found, accounting for about 20% of familial ALS (FALS). However, few have been identified in Chinese patients with FALS. We present a five-generation Chinese family with FALS with a rare mutation in exon 4 of the Cu/Zn SOD gene codon position 105, converting serine to leucine. Forty-seven family members including the proband were examined clinically; two affected persons had EMG and nerve conduction studies. Genomic DNA was extracted from peripheral blood leukocytes of the family members after informed consent. All five exons of the Cu/Zn SOD gene were amplified by polymerase chain reaction (PCR) and DNA sequencing was performed on purified products. Exon 4 of the Cu/Zn SOD gene was amplified from genomic DNA isolated from not only the family members but also from 50 unrelated healthy Chinese control subjects. A rare S105L mutation, which is heterozygous with C by T at position 1125 of the coding sequence in exon 4 of the Cu/Zn SOD gene, was found in the proband and her affected elder brother. The clinical phenotype within the FALS patients in this family is relatively variable. The age at onset ranged from 32 to 65 years, with initial symptoms in either the upper or lower extremities in different family members. Two subjects aged 72 and 60 years remained asymptomatic until their death from other causes, although their offspring carrying the same mutation have already developed clinical evidence of the disease. The S105L mutation was identified in another seven asymptomatic family members, aged 7 to 59 years. It is concluded that the S105L mutation in exon 4 of the Cu/Zn SOD gene is pathogenic. The phenotype is characterized by relatively variable clinical symptoms, with incomplete penetrance.

语种: 英语
WOS记录号: WOS:000233617700007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/68292
Appears in Collections:北京大学第三临床医学院_神经内科_期刊论文

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作者单位: 1.Peking Univ, Hosp 3, Dept Neurol, Beijing 100083, Peoples R China
2.Peking Univ, Ctr Human Dis Genom, Beijing 100083, Peoples R China
3.Peking Univ, Sch Basic Med Sci, Lab Med Immunol, Beijing 100083, Peoples R China

Recommended Citation:
Zhang, HG,Zhao, HS,Lu, M,et al. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China[J]. AMYOTROPHIC LATERAL SCLEROSIS,2005,6(4):234-238.
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