Alliance to Cure Cavernous Malformation Historical Projects

Sometimes the hereditary form of a particular disease is passed down through many generations of a family. This can happen in autosomal dominant rare diseases (diseases that do not skip generations) where the families are isolated and where the mutation does not prevent those who have it from having children. These are called founder mutations.

Alliance to Cure Cavernous Malformation has genealogy projects that seek to trace the founding families of these mutations in the United States. This is work that our members have been doing together. If you are affected by one of these mutations, we ask that you reach out to us so that we can connect you to your extended family and help us flesh out the family tree.

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.

In the United States, we know of three founder mutations. Please click the links to obtain more details and the Alliance to Cure Cavernous Malformation contact person for each:

  1. CCM1 Common Hispanic Mutation. This mutation has been passed down in families who can trace their ancestry to the original Spanish populations in New Mexico and Northern Mexico. Alliance to Cure Cavernous Malformation has done extensive genealogy in this group, tracing the original mutation to the Baca and Dominguez de Mendoza families of the early 1600s.
  2. CCM2 Exon 2-10 Deletion. So far, Alliance to Cure Cavernous Malformation has connected families with roots in South Carolina or Missouri in the early 1800s, but we suspect the founders date back much further as there are many families with this mutation who have not been joined to the tree yet.
  3. CCM2 Ashkenazi Mutation. We are just beginning to locate the families who are affected by this mutation. Researchers at Duke University are working with us to understand its origins.

Genes can mutate in many ways. Many, many families with CCM1 or CCM2 mutations do not fit into one of these founder mutation groups. Your genetic test report will indicate the specific mutation that impacts your family.


Updated 5.11.20  Reviewed 4.17.22