Zhu Hui, Guo Yingjie, Feng Xuemin, Zhang Rensheng, Zhou Chunkui, Li Guibo, Liu Jingyao
Department of Neurology, First Hospital, Jilin University, Changchun, China.
J Mol Neurosci. 2014 Dec;54(4):790-5. doi: 10.1007/s12031-014-0415-3. Epub 2014 Sep 4.
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.
在过去十年中，中国家庭中已报道了几例携带不同突变的脑海绵状血管畸形（CCM）病例。在此，我们报告了一个中国家庭中先证者的CCM病例，其CCM的突变类型仍有待确定。该家庭的先证者表现出一系列临床症状和特征，包括瘫痪、失语、脑部多处病变以及皮肤毛细血管 - 静脉畸形。对先证者的三个CCM基因（CCM1、CCM2和CCM3）的所有编码外显子进行了聚合酶链反应（PCR），结果显示CCM1基因第15外显子存在杂合性T缺失（c.1542delT）。对家庭成员进行的靶向突变分析表明，该突变在家族中与疾病共分离。这是杂合性CCM1缺失突变的首次报道。我们的研究结果提供了一个中国家庭新的CCM基因突变谱，这对于CCM的遗传咨询具有重要意义。
