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  • Author or Editor: Maria Cristina Patrosso x
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Silvana Penco, Rachele Ratti, Elena Bianchi, Alberto Citterio, Maria Cristina Patrosso, Alessandro Marocchi, Laura Tassi, Alessandro La Camera and Massimo Collice

Object

The purpose of this study was to underline the effectiveness of molecular analysis in cerebral cavernous angioma, with special attention to the familial forms.

Methods

Multiplex Ligation-dependent Probe Amplification analysis integrates the consecutive sequence analysis of the 3 genes (Krit1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) known to be responsible for cerebral cavernous malformation lesions.

Results

The Multiplex Ligation-dependent Probe Amplification analysis revealed a new mutation, a heterozygous exon 9/10 deletion of Krit1, in the proband and in all affected family members.

Conclusions

The identification of the molecular defect allows physicians to screen family members at risk and to identify affected individuals before the onset of clinical symptoms caused by the presence of lesions.