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

被引：21

作者：

Gianfrancesco, F. ^{[1
,2
]}

Esposito, T. ^{[1
]}

Penco, S. ^{[3
]}

Maglione, V. ^{[2
]}

Liquori, C. L. ^{[4
]}

Patrosso, M. C. ^{[3
]}

Zuffardi, O. ^{[5
]}

Ciccodicola, A. ^{[1
]}

Marchuk, D. A. ^{[4
]}

Squitieri, F. ^{[2
]}

机构：

[1] Italian Natl Res Council, Inst Genet & Biophys Adriano Buzzati Traverso, I-80131 Naples, Italy

[2] IRCCS Neuromed, Neurogenet Unit, I-86077 Pozzilli, IS, Italy

[3] AO Niguarda Ca Granda Hosp, Dept Lab Med, Milan, Italy

[4] Duke Univ, Med Ctr, Dept Mol Genet & Microbiol, Durham, NC USA

[5] Univ Pavia, I-27100 Pavia, Italy

来源：

NEUROSCIENCE | 2008年 / 155卷 / 02期

关键词：

cerebral cavernous malformations; ZPLD1; KRIT1; MGC4607; PDCD10;

D O I：

10.1016/j.neuroscience.2008.05.030

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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. (C) 2008 IBRO. Published by Elsevier Ltd. All rights reserved.

引用

页码：345 / 349

页数：5

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