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学科主题: 基础医学
题名:
Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation
作者: Liang, Jian-Tao1,2; Huo, Li-Rong3,4; Bao, Yu-Hai1,2; Wang, Zhen-Yu5; Ling, Feng1,2
关键词: neurofibromatosis type I ; cerebral vessel stenosis ; stroke ; mutation
刊名: NEUROSCIENCE BULLETIN
发表日期: 2013-12-01
DOI: 10.1007/s12264-013-1388-x
卷: 29, 期:6, 页:708-714
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Neurosciences
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: PERFORMANCE LIQUID-CHROMATOGRAPHY ; ISCHEMIC-STROKE ; NF1 GENE ; DISEASE ; INSIGHTS
英文摘要:

Neurofibromatosis type I (NF1) is a hereditary, autosomal dominant, neurocutaneous syndrome that is attributed to NF1 gene mutation. NF1 has been associated with scoliosis, macrocephaly, pseudoarthrosis, short stature, mental retardation, and malignancies. NF1-associated vasculopathy is an uncommon and easily-overlooked presentation. Examination of a Chinese family affected by NF1 combined with cerebral vessel stenosis and/or abnormality suggested a possible relationship between NF1 and vessel stenosis. To determine which NF1 gene mutation is associated with vascular lesions, particularly cerebral vessel stenosis, we examined one rare family with combined cerebral vessel lesions or maldevelopment. Vascular lesions were detected using transcranial Doppler sonography and digital subtraction angiography in family members. Next, denaturing high-performance liquid chromatography and sequencing were used to screen for NF1 gene mutations. The results revealed a nonsense mutation, c.541C > T, in the NF1 gene. This mutation truncated the NF1 protein by 2659 aminoacid residues at the C-terminus and co-segregated with all of the patients, but was not present in unaffected individuals in the family. Exceptionally, three novel mutations were identified in unaffected family members, but these did not affect the product of the NF1 gene. Thus the nonsense mutation, c.541C > T, located in the NF1 gene could constitute one genetic factor for cerebral vessel lesions.

语种: 英语
所属项目编号: 2006AA02Z497 ; 2007CB511902 ; 81341036
项目资助者: National High Technology Development Project (863 Project) of China ; National Basic Research Development Program (973 program) of China ; National Natural Science Foundation of China
WOS记录号: WOS:000327951600005
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60601
Appears in Collections:基础医学院_北京大学医学遗传中心_期刊论文

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作者单位: 1.Capital Med Univ, Xuan Wu Hosp, Dept Neurosurg, Beijing 100053, Peoples R China
2.Cerebrovasc Dis Res Inst, Beijing 100053, Peoples R China
3.Peking Univ, Ctr Med Genet, Beijing 100083, Peoples R China
4.Capital Med Univ, Fu Xing Hosp, Dept Neurol, Beijing 100038, Peoples R China
5.Peking Univ, Hosp 3, Dept Neurosurg, Beijing 100191, Peoples R China

Recommended Citation:
Liang, Jian-Tao,Huo, Li-Rong,Bao, Yu-Hai,et al. Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation[J]. NEUROSCIENCE BULLETIN,2013,29(6):708-714.
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