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Features of a Chinese family with cerebral cavernous malformation induced by a novel ccm1 gene mutation

Chinese Medical Journal 2013年第18期126卷 3427-3432页

作者： WANG Xue LIU Xue-wu Nora Lee LIU Qi-ji LI Wen-na HAN Tao WEI Kun-kun QIAO Shan CHI Zhao-fu Department of Neurology Qilu Hospital Shandong University Jinan Shandong 250012 China Department of Neurology Hartford Hospital Hartford Connecticut 06106 USA Department of Medical Genetics Key Laboratory for Experimental Teratology of the Ministry of Education Shandong University School of Medicine Jinan Shandong 250012 China

Background Familial cerebral cavernous malformations （ccms）, characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial ccms is an autosomal dominant inherited disorder and three ccm genes have been identified. We report a Chinese family with ccms and intend to explore clinical, pathological, magnetic resonance imaging （MRI） features and pathogenic gene mutation of this family. Methods Totally 25 family members underwent brain MRI examination and clinical check. Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination. In addition, polymerase chain reaction （PCR） and direct sequencing were performed with genomic DNA extracted from 25 family members＇ blood samples for mutation detection. Results Brain MRI identified abnormal results in seven family members. All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma. T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity. Gradient-echo （GRE） sequence was more sensitive to find micro- cavernous hemangiomas. There was a wide range in the clinical manifestations as well as the age of onset in the family. The youngest patient was an 8-year-old boy with least intracranial lesions. Histopathological and microstructural examination showed that ccms were typically discrete multi-sublobes of berry-like lesions, with hemorrhage in various stages of illness evolution. They were formed by abnormally enlarged sinusoids and the thin basement membranes. A novel T deletion mutation in exon 14 of ccm1 gene was identified by mutation detection in the seven patients. But unaffected members and healthy controls did not carry this mutation. Conclusions The clinical manifestations were heterogenic within this family. We identified a novel mutation （c.1396delT） was the disease-caus

关键词： cavernous malformation pathology magnetic resonance imaging ccm1 gene mutation Chinese family

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ccm基因与肿瘤发生的研究进展

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国际遗传学杂志 2017年第2期40卷 112-117页

作者：郭君琪胡金霞焦飞 264003 滨州医学院肿瘤分子生物学研究室

ccm基因作为脑血管海绵状畸形的致病基因, 其突变最初仅被认为与脑血管畸形的发生有关。随着对该基因及其编码产物研究的深入, 已证实其可参与到多种生物学进程中, 与肿瘤的发生发展亦密切相关。本文在介绍ccm基因结构、功能及相互作用... 详细信息

ccm基因作为脑血管海绵状畸形的致病基因, 其突变最初仅被认为与脑血管畸形的发生有关。随着对该基因及其编码产物研究的深入, 已证实其可参与到多种生物学进程中, 与肿瘤的发生发展亦密切相关。本文在介绍ccm基因结构、功能及相互作用的基础上, 结合新近进展, 重点综述了ccm基因在不同类型癌症中的可能作用机制, 以期为肿瘤的机制研究提供新的视角和可能线索。

关键词： ccm1 ccm2 ccm3 癌症脑血管海绵状畸形

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