Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Via C. Valeria 1, 98125 Messina, Italy ; IRCCS Centro Neurolesi "Bonino-Pulejo", Via Palermo SS. 113, Contrada Casazza, 98122 Messina, Italy.
Biomed Res Int. 2013;2013:459253. doi: 10.1155/2013/459253. Epub 2013 Aug 22.
Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system. CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1 (K-Rev interaction trapped 1 (KRIT1)), CCM2 (MGC4607), and CCM3 (PDCD10). CCMs occur as a single or multiple malformations that can lead to seizures, focal neurological deficits, hemorrhagic stroke, and headache. However, patients are frequently asymptomatic. In our previous mutation screening, performed in a cohort of 95 Italian patients, both sporadic and familial, we have identified several mutations in CCM genes, three of which in three distinct sporadic patients. In this study, representing further molecular screening of the three CCM genes, in a south Italian cohort of CCM patients enrolled by us in the last three years, we report the identification of other four new mutations in 40 sporadic patients with either single or multiple CCM.
脑静脉畸形（CCMs）是一种以异常扩大的毛细血管腔为特征的血管病变，影响中枢神经系统。CCMs 可以是散发性的，也可以是家族性常染色体显性遗传疾病，其不完全外显和不同的临床表现归因于三个不同基因的突变：CCM1（K-Rev 相互作用捕获 1（KRIT1））、CCM2（MGC4607）和 CCM3（PDCD10）。CCMs 表现为单发或多发畸形，可导致癫痫发作、局灶性神经功能缺损、出血性中风和头痛。然而，患者通常无症状。在我们之前对 95 名意大利患者（包括散发性和家族性）进行的突变筛查中，我们在三个不同的散发性患者中发现了 CCM 基因的几个突变。在这项研究中，我们对过去三年中在我们这里登记的意大利南部 CCM 患者的三个 CCM 基因进行了进一步的分子筛查，报告了在 40 名单发或多发 CCM 的散发性患者中发现了另外四个新的突变。
