Article
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Human mutation - 1 Dec 2018
Nardella Grazia, Visci Grazia, Guarnieri Vito, Castellana Stefano, Biagini Tommaso, Bisceglia Luigi, Palumbo Orazio, Trivisano Marina, Vaira Carmela, Scerrati Massimo, Debrasi Davide, D'Angelo Vincenzo, Carella Massimo, Merla Giuseppe, Mazza Tommaso, Castori Marco, D'Agruma Leonardo, Fusco Carmela
Abstract excerpt
Cerebral cavernous malformation (CCM) is a capillary malformation arising in the central nervous system. CCM may occur sporadically or cluster in families with autosomal dominant transmission, incomplete penetrance, and variable expressivity. Three genes are associated with CCM KRIT1, CCM2, and PDCD10. This work is a retrospective single-center molecular study on samples from multiple Italian clinical providers....
Topics
- Adult
- Aged
- Apoptosis Regulatory Proteins
- Autophagy
- Carrier Proteins
- Cells, Cultured
- Central Nervous System Neoplasms
- Child
- Child, Preschool