A GENE RESPONSIBLE FOR CAVERNOUS MALFORMATIONS OF THE BRAIN MAPS TO CHROMOSOME 7Q

Cavernous malformations of the brain are vascular lesions which are pr esent in up to 0.4% of all individuals and which are often accompanied by seizures, migraine, hemorrhage and other neurologic problems. Usin g linkage analysis and a set of short tandem repeat polymorphisms, a g ene responsible for cavernous malformations in a large Hispanic kindre d was mapped to the q11 - q22 region of chromosome 7. A maximum pairwi se lod score of 4.2 was obtained at zero recombination with marker PY5 -18 at locus D7S804. Lod scores in excess of 3.0 were obtained with fo ur additional markers closely linked to PY5-18. A broad chromosome 7q haplotype of 33 cM length on the sex average map was shared by all aff ected individuals indicating that the gene lies between loci D7S502 an d D7S479.