ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

Journal Article (Journal Article)

The past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM) with the identification of the CCM1, CCM2, and CCM3 genes. Recently, we have recruited a patient with an X/3 balanced translocation that exhibits CCM. By fluorescent in situ hybridization analysis, sequence analysis tools and database mining procedures, we refined the critical region to an interval of 200-kb and identified the interrupted ZPLD1 gene. We detected that the mRNA expression level of ZPLD1 gene is consistently decreased 2.5-fold versus control (P=0.0006) with allelic loss of gene expression suggesting that this protein may be part of the complex signaling pathway implicated in CCM formation.

Full Text

Duke Authors

Cited Authors

  • Gianfrancesco, F; Esposito, T; Penco, S; Maglione, V; Liquori, CL; Patrosso, MC; Zuffardi, O; Ciccodicola, A; Marchuk, DA; Squitieri, F

Published Date

  • August 13, 2008

Published In

Volume / Issue

  • 155 / 2

Start / End Page

  • 345 - 349

PubMed ID

  • 18632209

International Standard Serial Number (ISSN)

  • 0306-4522

Digital Object Identifier (DOI)

  • 10.1016/j.neuroscience.2008.05.030


  • eng

Conference Location

  • United States