title: ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.
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.
authors.affiliation: Institute of Genetics and Biophysics, Adriano Buzzati Traverso, Italian National Research Council, Via Pietro Castellino, 111, 80131 Naples, Italy. gianfrancesco@igb.cnr.it
authors.forename: F
authors.initials: F
authors.lastname: Gianfrancesco
authors.forename: T
authors.initials: T
authors.lastname: Esposito
authors.forename: S
authors.initials: S
authors.lastname: Penco
authors.forename: V
authors.initials: V
authors.lastname: Maglione
authors.forename: C L
authors.initials: CL
authors.lastname: Liquori
authors.forename: M C
authors.initials: MC
authors.lastname: Patrosso
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: A
authors.initials: A
authors.lastname: Ciccodicola
authors.forename: D A
authors.initials: DA
authors.lastname: Marchuk
authors.forename: F
authors.initials: F
authors.lastname: Squitieri
mesh_terms: D000328:Adult; D002460:Cell Line; D019457:Chromosome Breakage; D002893:Chromosomes, Human, Pair 3; D030562:Databases, Protein; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000166:cytology / Q000502:physiology; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology*; D014178:Translocation, Genetic; D049951:X Chromosome Inactivation / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D012333:RNA, Messenger; C533281:ZPLD1 protein, human