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脑海绵状血管瘤(CCM)是多定位于中枢神经系统的一种脑部血管异常,少数在皮肤和视网膜处有并发症。依据致病基因在染色体上的不同位置分为 CCM1、CCM2 和 CCM3 3 种类型。目前,CCM1、CCM2 和 CCM3 的致病基因已经被克隆,分别为 krit1、MGC4607 和细胞程序性死亡 10 基因(PDCD10)。利用连锁分析发现内蒙古的一个家系属于 CCM1,突变检测发现患者 CCM1 基因(krit1)第 9 内含子和第 10 外显子拼接位点处存在一“GTA”缺失,该突变导致终止密码子提前出现,产生截短蛋白。实验结果支持 krit1 为 CCM1 致病基因。
Cavernous hemangioma (CCM) is a brain vascular abnormality that is localized in the central nervous system. A few have complications in the skin and retina. According to the pathogenic genes in different positions on the chromosome into CCM1, CCM2 and CCM3 three types. Currently, the causative genes of CCM1, CCM2 and CCM3 have been cloned as krit1, MGC4607 and the apoptosis gene 10 (PDCD10), respectively. Using linkage analysis, one of the families in Inner Mongolia was found to belong to CCM1. Mutations detected a deletion of “GTA” at the splicing site of intron 9 and 10 of CCM1 gene (krit1), leading to early termination of codons , Produce truncated protein. The experimental results support that krit1 is the CCM1 causative gene.