Large germline deletions and duplication in isolated cerebral cavernous malformation patients
Large germline deletions and duplication in isolated cerebral cavernous malformation patients
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DOI：
10.1007/s10048-006-0076-7
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发表时间：
2007-04-01
期刊：
影响因子：
2.2
通讯作者：
Siegel, A. M.
中科院分区：
文献类型：
--
作者：
Felbor, U.;Gaetzner, S.;Siegel, A. M.
脑海绵状畸形（CCM）是一种血管病变，容易导致头痛、癫痫发作和出血性中风。遗传性CCM通常与多个CCM的发生有关，发生频率为1：2，000至1：10，000。在这项研究中，8例孤立的情况下，多个CCM，但没有CCM 1 -3点突变进行了分析，使用多重连接依赖的探针扩增试验。四个基因组重排，包括以前未报告的大重复内的CCM 1基因和一个新的缺失涉及整个编码区的CCM 2基因。因此，建议系统筛查CCM缺失/重复。
Cerebral cavernous malformations (CCM) are vascular lesions that predispose to headaches, seizures, and hemorrhagic stroke. Hereditary CCMs are usually associated with the occurrence of multiple CCMs and occur with a frequency of 1:2,000 to 1:10,000. In this study, eight isolated cases with multiple CCMs but no CCM1-3 point mutation were analyzed using the multiplex ligation-dependent probe amplification assay. Four genomic rearrangements were identified including a previously unreported large duplication within the CCM1 gene and a novel deletion involving the entire coding region of the CCM2 gene. Consequently, systematic screening for CCM deletions/duplications is recommended.