Large germline deletions and duplication in isolated cerebral cavernous malformation patients.
Neurogenetics
; 8(2): 149-53, 2007 Apr.
Article
em En
| MEDLINE
| ID: mdl-17211633
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 12,000 to 110,000. 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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Deleção de Genes
/
Mutação em Linhagem Germinativa
Limite:
Humans
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article