MAPPING A GENE CAUSING CEREBRAL CAVERNOUS MALFORMATION TO 7Q11.2-Q21

Cerebral cavernous malformation is a common disease of the brain vascu lature of unknown cause characterized by dilated thin-walled sinusoida l vessels (caverns); these lesions cause varying clinical presentation s which include headache, seizure, and hemorrhagic stroke. This disord er is frequently familial, with autosomal dominant inheritance. Using a general linkage approach in two extended cavernous malformation kind reds, we have identified linkage of this trait to chromosome 7q11.2-q2 1. Multipoint linkage analysis yields a peak logarithm of odds (lod) s core of 6.88 with zero recombination with locus D7S669 and localizes t he gene to a 7-cM region in the interval between loci ELN and D7S802.