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

Proc Natl Acad Sci U S A. 1995 Jul 3;92(14):6620-4. doi: 10.1073/pnas.92.14.6620.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / pathology*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • DNA / blood
  • DNA / isolation & purification
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Genome, Human
  • Hemangioma, Cavernous / diagnosis
  • Hemangioma, Cavernous / genetics*
  • Hemangioma, Cavernous / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Recombination, Genetic
  • Repetitive Sequences, Nucleic Acid*

Substances

  • Genetic Markers
  • DNA