title: Familial cerebral cavernous angioma: a gene localized to a 15-cM interval on chromosome 7q.
abstract: Cerebral cavernous angiomas are collections of closely clustered vessels without intervening normal brain parenchyma, with microscopic evidence of hemorrhage, frequently multiple; they are best visualized with magnetic resonance imaging. Familial cerebral cavernous angioma occurs as an autosomal dominant disorder, although carriers of the gene are often asymptomatic. Recently, a gene responsible for familial cerebral cavernous angioma in a large Hispanic kindred was mapped to human chromosome 7q11-22, representing a large segment of DNA containing approximately 33 cM (about 33 million base pairs). This distance did not allow more restricted isolation of the region containing the familial cerebral cavernous angioma gene. In this report, we present a large white kindred with familial cerebral cavernous angioma and confirm the mapping to 7q11-22, including the genetic markers D7S558/D7S1789 and D7S804. Recombination between several markers in the region suggests that the candidate region is distal to D7S804. Combining our results with those previously published, we suggest that the gene is likely to reside within a 15-cM region bounded by markers D7S660 and D7S558/D7S1789. These results should assist the further refinement of the candidate region for familial cerebral cavernous angioma and facilitate the search for the gene.
authors.affiliation: Department of Neurology, University of Minnesota, Minneapolis, USA.
authors.forename: A
authors.initials: A
authors.lastname: Gil-Nagel
authors.forename: J
authors.initials: J
authors.lastname: Dubovsky
authors.forename: K J
authors.initials: KJ
authors.lastname: Wilcox
authors.forename: J M
authors.initials: JM
authors.lastname: Stewart
authors.forename: V E
authors.initials: VE
authors.lastname: Anderson
authors.forename: I E
authors.initials: IE
authors.lastname: Leppik
authors.forename: H T
authors.initials: HT
authors.lastname: Orr
authors.forename: E W
authors.initials: EW
authors.lastname: Johnson
authors.forename: J L
authors.initials: JL
authors.lastname: Weber
authors.forename: S S
authors.initials: SS
authors.lastname: Rich
mesh_terms: D001921:Brain / Q000473:pathology*; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology*; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004273:DNA, Neoplasm; D005819:Genetic Markers; D006392:Hemangioma, Cavernous / Q000235:genetics* / Q000473:pathology*; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D010375:Pedigree; D010641:Phenotype
chemical_list: D004273:DNA, Neoplasm; D005819:Genetic Markers