Article
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
American journal of human genetics - 1 Dec 2003
Liquori Christina L, Berg Michel J, Siegel Adrian M, Huang Elizabeth, Zawistowski Jon S, Stoffer T'Prien, Verlaan Dominique, Balogun Fiyinfolu, Hughes Lori, Leedom Tracey P, Plummer Nicholas W, Cannella Milena, Maglione Vittorio, Squitieri Ferdinando, Johnson Eric W, Rouleau Guy A, Ptacek Louis, Marchuk Douglas A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. Mutations in the gene KRIT1 are responsible for type 1 CCM (CCM1). We report that a novel gene, MGC4607, exhibits eight different mutations in nine families with type 2 CCM (CCM2). MGC4607, similar to the KRIT1...
Topics
- Blotting, Northern
- Brain
- Central Nervous System Vascular Malformations
- Chromosome Mapping
- Genetic Predisposition to Disease
- Humans
- Integrins
- KRIT1 Protein