学科主题基础医学
Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation
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
2013-12-01
DOI10.1007/s12264-013-1388-x
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
WOS记录号WOS:000327951600005
项目编号2006AA02Z497 ; 2007CB511902 ; 81341036
资助机构National High Technology Development Project (863 Project) of China ; National Basic Research Development Program (973 program) of China ; National Natural Science Foundation of China
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被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60601
专题北京大学基础医学院_北京大学医学遗传中心
北京大学医学部管理机构_北京大学医学部校医院
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
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GB/T 7714
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.
APA Liang, Jian-Tao,Huo, Li-Rong,Bao, Yu-Hai,Wang, Zhen-Yu,&Ling, Feng.(2013).Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation.NEUROSCIENCE BULLETIN,29(6),708-714.
MLA Liang, Jian-Tao,et al."Cerebral vasculopathy in a Chinese family with neurofibromatosis type I mutation".NEUROSCIENCE BULLETIN 29.6(2013):708-714.
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