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.

@article{Stahl2008NovelCC,
  title={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.},
  author={Sonja Stahl and Sabine Gaetzner and Katrin Voss and Bettina Brackertz and Elisa Schleider and Oguzkan S{\"u}r{\"u}c{\"u} and Ekkehard Kunze and Christian Netzer and Christoph Korenke and Ulrich Finckh and Mario Habek and Zdravka Poljakovi{\'c} and Miriam Elbracht and Sabine S Rudnik-Sch{\"o}neborn and Helmut Bertalanffy and Ulrich Sure and Ute Felbor},
  journal={Human mutation},
  year={2008},
  volume={29 5},
  pages={709-17}
}
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 malformations. Splice site mutations constituted almost 20% of all CCM mutations identified… CONTINUE READING

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