Article
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
Human mutation - 1 May 2008
Stahl Sonja, Gaetzner Sabine, Voss Katrin, Brackertz Bettina, Schleider Elisa, Sürücü Oguzkan, Kunze Ekkehard, Netzer Christian, Korenke Christoph, Finckh Ulrich, Habek Mario, Poljakovic Zdravka, Elbracht Miriam, Rudnik-Schöneborn Sabine, Bertalanffy Helmut, Sure Ulrich, Felbor Ute
Abstract excerpt
Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mutations. The mutation detection rate was >90% for familial cases and >60% for isolated cases with multiple...
Topics
- Apoptosis Regulatory Proteins
- Base Sequence
- Carrier Proteins
- Cell Line
- DNA Primers
- Female
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein