title: Large germline deletions and duplication in isolated cerebral cavernous malformation patients.
abstract: Cerebral cavernous malformations (CCM) are vascular lesions that predispose to headaches, seizures, and hemorrhagic stroke. Hereditary CCMs are usually associated with the occurrence of multiple CCMs and occur with a frequency of 1:2,000 to 1:10,000. In this study, eight isolated cases with multiple CCMs but no CCM1-3 point mutation were analyzed using the multiplex ligation-dependent probe amplification assay. Four genomic rearrangements were identified including a previously unreported large duplication within the CCM1 gene and a novel deletion involving the entire coding region of the CCM2 gene. Consequently, systematic screening for CCM deletions/duplications is recommended.
authors.affiliation: Department of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, Germany. felbor@biozentrum.uni-wuerzburg.de
authors.forename: U
authors.initials: U
authors.lastname: Felbor
authors.forename: S
authors.initials: S
authors.lastname: Gaetzner
authors.forename: D J
authors.initials: DJ
authors.lastname: Verlaan
authors.forename: R
authors.initials: R
authors.lastname: Vijzelaar
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: A M
authors.initials: AM
authors.lastname: Siegel
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000469:parasitology; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D017353:Gene Deletion; D020440:Gene Duplication; D018095:Germ-Line Mutation; D006801:Humans; D007438:Introns; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA