The paper, A founder mutation in the Ashkenazi Jewish population affecting mRNA splicing of the CCM2 gene is associated with Cerebral Cavernous Malformations, indicated that a very specific mutation of the first exon of the CCM2 gene causes the CCM2 gene to stop functioning (a “2-base pair change in CCM2, c.30+5_6delinsTT, disrupts proper splice donor utilization leading to a degraded transcript”).
This specific change is observed only among those of Jewish Ashkenazi descent, leading to the conclusion that this is a founder mutation. A founder mutation means that families with this specific defect of the CCM2 gene share a common ancestor and are distantly related.
Angioma Alliance is working to bring together those who are affected by this particular founder mutation to explore genealogy. We have created a Google email group for communication. To receive an invitation to join the group, please write firstname.lastname@example.org. We are also encouraging group members to participate in research at Duke University, where the founder mutation is being further explored.