Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: A causative mutation?

Article ID	Journal	Published Year	Pages	File Type
5906621	Gene	2013	6 Pages	PDF

Abstract

âº We describe a new mutation in CCM2 gene in an Italian family with multiple CCMs. âº The mutation cosegregated with the CCM disease phenotype within the family âº Real-time RT-PCR shows a reduction of CCM2 mRNA levels probably through a mechanism such as nonsense-mRNA decay âº This mutation may be involved in CCM pathogenesis.

Keywords

Haploinsufficiency PDCD10 Programmed cell death 10 Allelic expression imbalance KRIT1 PTB AEI MLPA NMD RT-PCR GAPDH CCm Reverse transcriptase PCR MRI Epilepsy Magnetic resonance imaging multiplex ligation-dependent probe amplification phosphotyrosine binding domain CNS PCR-RFLP Real-time RT-PCR central nervous system mRNA decay Nonsense-mediated decay two-hit model Cerebral cavernous malformation Cerebral cavernous malformations polymerase chain reaction PCR restriction fragment length polymorphism glyceraldehyde 3 phosphate dehydrogenase