Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

Journal Article (Journal Article)

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. This protein may be part of the complex pathway of integrin signaling that, when perturbed, causes abnormal vascular morphogenesis in the brain, leading to CCM formation.

Full Text

Duke Authors

Cited Authors

  • Liquori, CL; Berg, MJ; Siegel, AM; Huang, E; Zawistowski, JS; Stoffer, T; Verlaan, D; Balogun, F; Hughes, L; Leedom, TP; Plummer, NW; Cannella, M; Maglione, V; Squitieri, F; Johnson, EW; Rouleau, GA; Ptacek, L; Marchuk, DA

Published Date

  • December 2003

Published In

Volume / Issue

  • 73 / 6

Start / End Page

  • 1459 - 1464

PubMed ID

  • 14624391

Pubmed Central ID

  • PMC1180409

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/380314


  • eng

Conference Location

  • United States