Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas
Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas
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DOI：
10.1212/01.wnl.0000055470.62265.44
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发表时间：
2003-04-08
期刊：
影响因子：
9.9
通讯作者：
Peraud, A
中科院分区：
文献类型：
--
作者：
Reich, P;Winkler, J;Peraud, A
目的：脑海绵状血管畸形（CCM）以家族性和散发性形式发生，无法通过表型区分。位于染色体7 q21上的CCM 1基因座的Krit 1基因突变占家族性CCM病例的大多数。作者研究了CCM 1基因突变在散发性海绵状血管瘤中的作用，以及在有症状的海绵状血管瘤中隐匿性家族形式的患病率。研究方法：作者筛选了在路德维希-马克西米利安大学神经外科接受治疗的72名连续患者的海绵状瘤和邻近正常脑组织的DNA，以检测Krit 1的突变。其中8名患者被怀疑在CCM 1上有突变，因为他们表现出多发性海绵状血管瘤或临床家族性形式。结果：无论是在海绵状血管瘤还是在正常脑组织中，都没有患者在CCM 1位点显示突变。结论：Krit 1基因突变很少引起散发性海绵状血管瘤。
Objective: Cerebral cavernous malformations (CCM) occur in familial and sporadic forms that cannot be distinguished by phenotype. Mutations in Krit1, a gene located at the CCM1 locus on chromosome 7q21, account for the majority of familial CCM-cases. The authors investigated the role that mutations at the CCM1 locus play in sporadic cavernomas and the prevalence of occult familial forms among symptomatic cavernomas. Methods: The authors screened the DNA of cavemomas and adjacent normal brain tissue of 72 consecutive patients treated at the Neurosurgical Department/Ludwig-Maximilian University for mutations in Krit1. Eight of the patients had been suspected to have a mutation at CCM1, as they showed multiple cavernomas or clinically familial forms. Results: None of the patients showed a mutation at the CCM1 site, either in cavernomas or in normal brain tissue. Conclusion: Mutations in Krit1 are seldom a cause of sporadic cavernomas.