Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes in
herited as an autosomal dominant trait, which can cause strokes and seizure
s. 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 fa
milies and five seemingly sporadic cases of CCM1. The mutations predicted t
runcation of the Krit1 mRNA encoded by CCM1, supporting the contention that
CCM result from loss of Krit1 protein function and the possibility that th
is protein acts as a tumor suppressor.