Identification of eight novel 5 '-exons in cerebral capillary malformationgene-1 (CCM1) encoding KRIT1

Truncating mutations in the CCM1 gene encoding KRIT1 were recently found in patients affected by inherited cerebral capillary malformations, lesions t hat cause a wide variety of neurologic problems. However. CCM1 mutations ha ve not been identified in all the families linked to CCM1. Here we demonstr ate that the CCMI gene contains right additional exons which may thus encom pass the missing mutations. (C) 2001 Elsevier Science B.V. All rights reser ved.