RNA-seq and WES of Familial CCM

Cerebral Cavernous Malformations(CCM) are vascular lesions that can be sporadic or familial autosomal dominant, with the latter defined by the occurrence of numerous lesions. Three mutations have been identified that play a role in the pathogenesis of familial cavernous hemangioma, but the exact mechanism is still not well understood. Furthermore, whether a patient with CCM will hemorrhage or not is unpredictable. In our previous clinical work, we identified a family of CCM. After 8 years of follow-up, we performed whole-exome and transcriptome sequencing of this lineage.