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Neurologia. 2017 Oct;32(8):540-545. doi: 10.1016/j.nrl.2015.07.001. Epub 2015 Aug 21.

Molecular diagnosis in cerebral cavernous malformations.

[Article in English, Spanish]

Author information

1
Servicio de Biología Molecular, UGC Bioquímica Clínica, Hospital Universitario Virgen Macarena, Sevilla, España. Electronic address: elrufino@hotmail.com.
2
Servicio de Biología Molecular, UGC Bioquímica Clínica, Hospital Universitario Virgen Macarena, Sevilla, España.

Abstract

INTRODUCTION:

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.

DEVELOPMENT:

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.

CONCLUSIONS:

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.

KEYWORDS:

CCM1; CCM2; CCM3; Cavernomatosis cerebral; Cerebral cavernous malformations; DNA sequencing; Multiplex ligation-dependent probe analysis; Secuenciación

PMID:
26304651
DOI:
10.1016/j.nrl.2015.07.001
[Indexed for MEDLINE]
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