CCM2 Exon 2-10 Deletion

The CCM2 Exon 2-10 Deletion (CCM2 Common Deletion) is a founder mutation in the United States. A founder mutation means that families with this specific defect of the CCM2 gene share a common ancestor and are distantly related. So far, we have connected families whose ancestors lived in the Deep South, but we know others with long roots in the mid-West.

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 March 2020, we have connected more than 30 families and have traced the mutation as far back as a couple, Matthew Malachi Rushing and Mary Ann Bunch, born in South Carolina in 1800-1805. 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 an 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.

References

Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet. 2007 Jan;80(1):69-75.

Updated 3.22.20