title: Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach.
abstract: Object The purpose of this study was to underline the effectiveness of molecular analysis in cerebral cavernous angioma, with special attention to the familial forms. Methods Multiplex Ligation-dependent Probe Amplification analysis integrates the consecutive sequence analysis of the 3 genes (Krit1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) known to be responsible for cerebral cavernous malformation lesions. Results The Multiplex Ligation-dependent Probe Amplification analysis revealed a new mutation, a heterozygous exon 9/10 deletion of Krit1, in the proband and in all affected family members. Conclusions The identification of the molecular defect allows physicians to screen family members at risk and to identify affected individuals before the onset of clinical symptoms caused by the presence of lesions.
authors.affiliation: Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital Milano, Piazza Ospedale Maggiore 3, 20162 Milan, Italy. Silvana.Penco@ospedaleniguarda.it
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.forename: Rachele
authors.initials: R
authors.lastname: Ratti
authors.forename: Elena
authors.initials: E
authors.lastname: Bianchi
authors.forename: Alberto
authors.initials: A
authors.lastname: Citterio
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Patrosso
authors.forename: Alessandro
authors.initials: A
authors.lastname: Marocchi
authors.forename: Laura
authors.initials: L
authors.lastname: Tassi
authors.forename: Alessandro
authors.initials: A
authors.lastname: La Camera
authors.forename: Massimo
authors.initials: M
authors.lastname: Collice
mesh_terms: D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001932:Brain Neoplasms / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006392:Hemangioma, Cavernous / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D000075927:KRIT1 Protein; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D015335:Molecular Probes; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D051017:Apoptosis Regulatory Proteins; C502544:CCM2 protein, human; D002352:Carrier Proteins; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; D015335:Molecular Probes; C495390:PDCD10 protein, human; D011518:Proto-Oncogene Proteins