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Antonina Sidoti

Antonina Sidoti

University of Messina, Italy

Title: Cerebral cavernous malformations, CCM genetic test and follow-up of patients and their relatives: Our data

Biography

Biography: Antonina Sidoti

Abstract

Cerebral Cavernous Malformations (CCM) are vascular lesions involving brain capillaries. CCM is considered a rare genetic disorder however, its incidence is underestimated. Many cases, instead, are post-mortem accidentally detected, being asymptomatic about 30% of affected. Most common clinical manifestations include intracerebral hemorrhage, seizures, focal neurological deficits. Resonance Magnetic Image (RMI) performed with “gradient-echo” sequences is the most effective diagnostic method. CCM can arise sporadically or be inherited as autosomal dominant character leading to onset of familiar forms. Mutations at the three loci CCM1/KRIT1, CCM27MGC4607, CCM3/PDCD10 were detected in about 90% and 55% of patients affected by familial and sporadic forms, respectively. In the last 10 years, more than 100 CCM cases arrived to our laboratory for molecular diagnosis. Our diagnostic procedure includes both direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) performed for the three CCM genes on DNA sample extracted from peripheral blood, in order to detect point mutations or large genomic rearrangement, respectively. About mutations frequencies, our data overlap with literature’s ones. However, we noticed recurrent polymorphisms overall in CCM1 and CCM2 genes. Several case-control studies were performed and  rs17164451,  rs11542682  in  CCM1  and  rs11552377,  rs73107990,  rs2289367  in  CCM2 resulted associated with an increased risk of sporadic CCM development. Moreover, several  were detected in patients showing more severe symptomatology. Therefore, our aim is to integrate anamnesis and RMI data with genetic test results in order to establish possible genotype-phenotype correlations usable both as follow-up route for patients and as prognostic factors for their relatives