CCM2 Ashkenazi Mutation

In 2011, the Marchuk lab at Duke University discovered that seven unrelated United States families of Ashkenazi heritage were affected by the same mutation of the CCM2 gene.

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 coordinator@angioma.org. We are also encouraging group members to participate in research at Duke University, where the founder mutation is being further explored.

Updated 6.13.20