Davenport W J, Siegel A M, Dichgans J, Drigo P, Mammi I, Pereda P, Wood N W, Rouleau G A
Center for Research in the Neurosciences, Montreal General Hospital, and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Neurology. 2001 Feb 27;56(4):540-3. doi: 10.1212/wnl.56.4.540.
Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes inherited as an autosomal dominant trait, which can cause strokes and seizures. Recently, mutations of the CCM1 gene (chromosome 7q) have been found in a subset of families. The authors found 10 new mutations by screening 29 families and five seemingly sporadic cases of CCM. The mutations predicted truncation of the Krit1 mRNA encoded by CCM1, supporting the contention that CCM result from loss of Krit1 protein function and the possibility that this protein acts as a tumor suppressor.
脑海绵状血管畸形（CCM）是一种血管异常，有时作为常染色体显性性状遗传，可导致中风和癫痫发作。最近，在一部分家族中发现了CCM1基因（7号染色体q）的突变。作者通过筛查29个家族和5例看似散发的CCM病例发现了10个新突变。这些突变预计会导致CCM1编码的Krit1信使核糖核酸（mRNA）截短，支持了CCM是由Krit1蛋白功能丧失所致的观点，以及该蛋白可能作为肿瘤抑制因子的可能性。
