Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.
Cerebral cavernous malformation is a common disease of the brain vasculature of unknown cause characterized by dilated thin-walled sinusoidal vessels (caverns); these lesions cause varying clinical presentations which include headache, seizure, and hemorrhagic stroke. This disorder is frequently familial, with autosomal dominant inheritance. Using a general linkage approach in two extended cavernous malformation kindreds, we have identified linkage of this trait to chromosome 7q11.2-q21. Multipoint linkage analysis yields a peak logarithm of odds (lod) score of 6.88 with zero recombination with locus D7S669 and localizes the gene to a 7-cM region in the interval between loci ELN and D7S802.
Günel
M
M
Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.
Awad
I A
IA
Anson
J
J
Lifton
R P
RP
D001921:Brain / Q000473:pathology*; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000097:blood / Q000302:isolation & purification; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D015894:Genome, Human; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D005819:Genetic Markers; D004247:DNA