Large germline deletions and duplication in isolated cerebral cavernous malformation patients
| Autor: | Dominique J. Verlaan, Ute Felbor, S. Gaetzner, Raymon Vijzelaar, Guy A. Rouleau, Adrian M. Siegel |
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| Rok vydání: | 2007 |
| Předmět: |
Genetics
Point mutation Brain DNA Exons Biology Polymerase Chain Reaction Introns Germline Human genetics Cellular and Molecular Neuroscience Exon Germline mutation Gene Duplication Gene duplication Humans Coding region Multiplex ligation-dependent probe amplification Gene Deletion Germ-Line Mutation Genetics (clinical) |
| Zdroj: | Neurogenetics. 8:149-153 |
| ISSN: | 1364-6753 1364-6745 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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