Familial Cerebral Cavernous Angiomas: Clinical and Genetic Features in a Chinese Family with a Frame-Shift Mutation in the CCM1 Gene (krit1)

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• 作者：Hui Zhu (1)
  Yingjie Guo (2)
  Xuemin Feng (1)
  Rensheng Zhang (1)
  Chunkui Zhou (1)
  Guibo Li (3)
  Jingyao Liu (1)
  
• 关键词：Familial cerebral cavernous malformations ; CCM mutation ; MRI ; Chinese family
• 刊名：Journal of Molecular Neuroscience
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：54
• 期：4
• 页码：790-795
• 全文大小：460 KB
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  19. Riant F
• 作者单位：Hui Zhu (1)
  Yingjie Guo (2)
  Xuemin Feng (1)
  Rensheng Zhang (1)
  Chunkui Zhou (1)
  Guibo Li (3)
  Jingyao Liu (1)
  
  1. Department of Neurology, First Hospital, Jilin University, Changchun, China
  2. College of Life Science, Jilin University, Changchun, China
  3. Changchun Medical College, Changchun, China
  
• ISSN：1559-1166

文摘

A few cases of cerebral cavernous malformation (CCM) have been reported in Chinese families with different mutations during the past decade. Herein, we report a case of CCM in a proband in a Chinese family, for whom the mutation type of the CCM remains to be identified. The proband of the family presented a range of clinical symptoms and features that included paralysis, aphasia, multiple lesions in the brain, and cutaneous capillary–venous malformations. PCR was performed to amplify all of the coding exons of the three CCM genes (CCM1, CCM2, and CCM3) in the proband and revealed a heterozygous T deletion in exon 15 (c.1542delT) of CCM1 gene. Targeted mutation analysis in family members demonstrated that this mutation segregated with the disease in the family. This is the first report of a heterozygous CCM1 deletion mutation. Our findings provide a new CCM gene mutation profile in a Chinese family which will be of significance in genetic counseling for CCM.