Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

Christina L. Liquori, Michel J. Berg, Adrian M. Siegel, Elizabeth Huang, Jon S. Zawistowski, T'Prien Stoffer, Dominique Verlaan, Fiyinfolu Balogun, Lori Hughes, Tracey P. Leedom, Nicholas W. Plummer, Milena Cannella, Vittorio Maglione, Ferdinando Squitieri, Eric W. Johnson, Guy A. Rouleau, Louis Ptacek, Douglas A. Marchuk

Research output: Contribution to journalArticlepeer-review

Abstract

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 ICAP1α, 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.

Original languageEnglish
Pages (from-to)1459-1464
Number of pages6
JournalAmerican Journal of Human Genetics
Volume73
Issue number6
DOIs
Publication statusPublished - Dec 2003

ASJC Scopus subject areas

  • Genetics

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