RT Journal Article
T1 Molecular diagnosis in cerebral cavernous malformations.
T2 Diagnóstico molecular de cavernomatosis cerebral.
A1 Mondejar, R
A1 Lucas, M
K1 CCM1
K1 CCM2
K1 CCM3
K1 Cavernomatosis cerebral
K1 Cerebral cavernous malformations
K1 DNA sequencing
K1 Multiplex ligation-dependent probe analysis
K1 Secuenciación
AB Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%. Familial CCM is an autosomal dominant disease with incomplete clinical and radiological penetrance. Three genes have been linked to development of the lesions: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. The aetiological mutation is not detected in a large percentage of cases and new approaches are therefore needed. The aim of this review is to analyse current molecular techniques and the possible mutations or variations which can be detected in a molecular genetics or molecular biology laboratory. Likewise, we will analyse other alternatives that may help detect mutations in those patients showing negative results. A molecular diagnosis of cerebral cavernous malformations should provide at least the copy number variation and sequencing of CCM genes. In addition, appropriate genetic counselling is a crucial source of information and support for patients and their relatives.
YR 2015
FD 2015-08-21
LK http://hdl.handle.net/10668/10127
UL http://hdl.handle.net/10668/10127
LA en
LA es
DS RISalud
RD Apr 10, 2025