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Proc Natl Acad Sci U S A. 1995 Jul 3;92(14):6620-4.

Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.

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  • 1Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.


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.

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