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

Authors
  • M Günel
  • I A Awad
  • J Anson
  • R P Lifton
Publication Date
Jul 03, 1995
Source
PMC
Keywords
Disciplines
  • Medicine
License
Unknown

Abstract

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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