Abstract
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.
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Acknowledgments
The authors thank Dr. Teng Zhao for the assistance in investigating the pedigree. The authors also thank Dr. Jinguo Gao for the help with the laboratory results.
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There are no conflicts of interest.
Authors’ Contributions
Jingyao Liu and Hui Zhu carried out the molecular genetic studies, participated in the sequence alignment, and drafted the manuscript. Rensheng Zhang participated in the sequence alignment. Xuemin Feng participated in the design of the study. Chunkui Zhou and Guibo Li conceived of the study, participated in its design and coordination, and helped to draft the manuscript. All authors read and approved the final manuscript.
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Hui Zhu and Yingjie Guo contributed equally to this work.
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Zhu, H., Guo, Y., Feng, X. et al. Familial Cerebral Cavernous Angiomas: Clinical and Genetic Features in a Chinese Family with a Frame-Shift Mutation in the CCM1 Gene (krit1). J Mol Neurosci 54, 790–795 (2014). https://doi.org/10.1007/s12031-014-0415-3
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DOI: https://doi.org/10.1007/s12031-014-0415-3