Ontology highlight
ABSTRACT:
SUBMITTER: Liquori CL
PROVIDER: S-EPMC1180409 | biostudies-literature | 2003 Dec
REPOSITORIES: biostudies-literature
Liquori Christina L CL Berg Michel J MJ Siegel Adrian M AM Huang Elizabeth E Zawistowski Jon S JS Stoffer T'Prien T Verlaan Dominique D Balogun Fiyinfolu F Hughes Lori L Leedom Tracey P TP Plummer Nicholas W NW Cannella Milena M Maglione Vittorio V Squitieri Ferdinando F Johnson Eric W EW Rouleau Guy A GA Ptacek Louis L Marchuk Douglas A DA
American journal of human genetics 20031117 6
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 binding partner ICAP1alpha, encodes a protein with a phosphotyrosine-binding domain. ...[more]