CCM2 Exon 2-10 Deletion - A Founder Mutation

The CCM2 Exon 2-10 Deletion (CCM2 Common Deletion) is a founder mutation in the United States. This means that families with this specific defect of the CCM2 gene share a common ancestor and are distantly related. Angioma Alliance is working to find those who are affected in the hope of connecting these families and identifying the original founding couple. As of September 2019, we have a connected more than 30 families and have traced the mutation as far back as a couple, Matthew Malachi Rushing and Mary Ann Bunch, who were born in South Carolina in the late 1700s. We believe the mutation may have started in an even earlier generation.

Understanding the family tree is important for improving care for several reasons. It will help us:
• find and connect more at-risk families;
• identify geographic areas where we should put more resources into medical provider outreach to improve care; and
• tie the illness to the story of a state or region, which can raise visibility among the public and among legislators who have influence on research funding.

We would love to introduce patients affected by the CCM2 Exon 2-10 Deletion to our growing community of families via our closed Facebook group. We invite you to join this exciting project which now includes a professional genealogist. You don't need to have extensive genealogical information to participate - that is what we do with the project.

To let us know you are interested, you can email Connie Lee at clee@angioma.org. Make sure you include in your message that you are interested in the CCM2 Common Deletion Project.


Updated 8.24.19