Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Cell Line
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Chromosome Breakage
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Chromosomes, Human, Pair 3*
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Databases, Protein
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Female
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Hemangioma, Cavernous, Central Nervous System / genetics*
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Hemangioma, Cavernous, Central Nervous System / metabolism
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Hemangioma, Cavernous, Central Nervous System / pathology
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Humans
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Leukocytes, Mononuclear / cytology
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Leukocytes, Mononuclear / physiology
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Magnetic Resonance Imaging
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Membrane Proteins / genetics*
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Membrane Proteins / metabolism*
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Phenotype
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Primary Ovarian Insufficiency / complications
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Primary Ovarian Insufficiency / genetics
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RNA, Messenger / metabolism
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Signal Transduction / physiology*
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Translocation, Genetic*
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X Chromosome Inactivation / genetics
Substances
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Membrane Proteins
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RNA, Messenger
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ZPLD1 protein, human